20-62321181-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321181
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321181
    reference: chr 20
allele count: 2
allele frequency: 1.718921892189219e-5
allele num: 116352
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2104C>T
  hgvsp: ENSP00000457868.1:p.Arg702Cys
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2176C>T
  hgvsp: ENSP00000424307.2:p.Arg726Cys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.283C>T
  hgvsp: ENSP00000388063.1:p.Arg95Cys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2188C>T
  hgvsp: ENSP00000457428.1:p.Arg730Cys
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2104C>T
  hgvsp: ENSP00000322287.4:p.Arg702Cys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.398C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2104C>T
  hgvsp: ENSP00000359035.3:p.Arg702Cys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2104C>T
  hgvsp: ENSP00000353332.5:p.Arg702Cys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2189C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8426
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg726Cys
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-62321186-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321186
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321186
    reference: chr 20
allele count: 3
allele frequency: 2.58224448690802e-5
allele num: 116178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.288G>A
  hgvsp: ENST00000425905.1:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2109G>A
  hgvsp: ENST00000370018.3:c.2109G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2193G>A
  hgvsp: ENST00000492259.2:c.2193G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.403G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2181G>A
  hgvsp: ENST00000508582.2:c.2181G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2109G>A
  hgvsp: ENST00000360203.5:c.2109G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2194G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2109G>A
  hgvsp: ENST00000482936.1:c.2109G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2109G>A
  hgvsp: ENST00000318100.4:c.2109G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24165
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln727Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

20-62321189-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321189
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321189
    reference: chr 20
allele count: 9499
allele frequency: 8.180330692387186e-2
allele num: 116120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2196C>T
  hgvsp: ENST00000492259.2:c.2196C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.291C>T
  hgvsp: ENST00000425905.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2112C>T
  hgvsp: ENST00000370018.3:c.2112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2197C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2112C>T
  hgvsp: ENST00000360203.5:c.2112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2112C>T
  hgvsp: ENST00000482936.1:c.2112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2184C>T
  hgvsp: ENST00000508582.2:c.2184C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.406C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2112C>T
  hgvsp: ENST00000318100.4:c.2112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 3.25e1
  variant carriers: 952
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 634
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 7.5e0
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 814
genotype depth: GenotypeDepth
  all individuals: 17188
  bin: 2.25e1
  variant carriers: 488
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.75e1
  variant carriers: 343
genotype depth: GenotypeDepth
  all individuals: 22486
  bin: 2.75e1
  variant carriers: 739
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 1.25e1
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 3.75e1
  variant carriers: 1160
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.75e1
  variant carriers: 320
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 1062
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 238
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.75e1
  variant carriers: 969
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.25e1
  variant carriers: 480
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 198
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 7.75e1
  variant carriers: 23
hgvs: p.Asp728Asp
num of homozygotes: 475
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

20-62321192-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321192
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321192
    reference: chr 20
allele count: 3
allele frequency: 2.592643805309734e-5
allele num: 115712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.294C>T
  hgvsp: ENST00000425905.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2115C>T
  hgvsp: ENST00000482936.1:c.2115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2187C>T
  hgvsp: ENST00000508582.2:c.2187C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2115C>T
  hgvsp: ENST00000360203.5:c.2115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2115C>T
  hgvsp: ENST00000370018.3:c.2115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2199C>T
  hgvsp: ENST00000492259.2:c.2199C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2115C>T
  hgvsp: ENST00000318100.4:c.2115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.409C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2200C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr729Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-62321198-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321198
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321198
    reference: chr 20
allele count: 1
allele frequency: 8.686135191008112e-6
allele num: 115126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2121T>C
  hgvsp: ENST00000318100.4:c.2121T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2205T>C
  hgvsp: ENST00000492259.2:c.2205T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.300T>C
  hgvsp: ENST00000425905.1:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2121T>C
  hgvsp: ENST00000360203.5:c.2121T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2121T>C
  hgvsp: ENST00000370018.3:c.2121T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2121T>C
  hgvsp: ENST00000482936.1:c.2121T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2193T>C
  hgvsp: ENST00000508582.2:c.2193T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.415T>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2206T>C
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala731Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

20-62321218-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321218
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321218
    reference: chr 20
allele count: 1
allele frequency: 8.90805109658109e-6
allele num: 112258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.435G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20G>A
  hgvsp: ENSP00000425576.1:p.Arg7Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225G>A
  hgvsp: ENSP00000457428.1:p.Arg742Lys
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141G>A
  hgvsp: ENSP00000359035.3:p.Arg714Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213G>A
  hgvsp: ENSP00000424307.2:p.Arg738Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141G>A
  hgvsp: ENSP00000353332.5:p.Arg714Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141G>A
  hgvsp: ENSP00000457868.1:p.Arg714Lys
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320G>A
  hgvsp: ENSP00000388063.1:p.Arg107Lys
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141G>A
  hgvsp: ENSP00000322287.4:p.Arg714Lys
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14024
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg714Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD

20-62321221-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321221
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321221
    reference: chr 20
allele count: 1
allele frequency: 8.939586275947149e-6
allele num: 111862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+3G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+3G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+3G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+3G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.438G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+3G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+3G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+3G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+3G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+3G>A
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2428
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2141+3G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

20-62321222-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321222
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321222
    reference: chr 20
allele count: 5
allele frequency: 4.499478060544977e-5
allele num: 111124
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+4C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+4C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+4C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+4C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+4C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.439C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+4C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+4C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+4C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+4C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19993
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6862
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12870
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 3.25e1
  variant carriers: 0
hgvs: c.2141+4C>T
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

20-62321223-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321223
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321223
    reference: chr 20
allele count: 2
allele frequency: 1.809692714177133e-5
allele num: 110516
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+5G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.440G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+5G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+5G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+5G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+5G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+5G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+5G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+5G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+5G>A
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12355
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2141+5G>A
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

20-62321230-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321230
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321230
    reference: chr 20
allele count: 3
allele frequency: 2.740126411165102e-5
allele num: 109484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.447C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+12C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+12C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+12C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+12C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+12C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+12C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+12C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+12C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+12C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17067
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10853
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

20-62321232-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321232
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321232
    reference: chr 20
allele count: 1
allele frequency: 9.247614115558185e-6
allele num: 108136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+14G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+14G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+14G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.449G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+14G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+14G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+14G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+14G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+14G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+14G>A
  variant of: http://identifiers.org/hgnc/44095
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15044
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4032
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/20-62321238-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321238
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321238
    reference: chr 20
allele count: 1
allele frequency: 9.432004678274321e-6
allele num: 106022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+20A>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+20A>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+20A>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+20A>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+20A>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+20A>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+20A>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.455A>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+20A>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+20A>C
  variant of: http://identifiers.org/hgnc/15888
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11764
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6841
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

20-62321241-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321241
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321241
    reference: chr 20
allele count: 1
allele frequency: 9.542531060938603e-6
allele num: 104794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+23C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+23C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+23C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.458C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+23C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+23C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+23C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+23C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+23C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+23C>T
  variant of: http://identifiers.org/hgnc/15888
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5285
  bin: 3.75e1
  variant carriers: 0
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: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

20-62321242-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321242
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321242
    reference: chr 20
allele count: 14
allele frequency: 1.345067445524769e-4
allele num: 104084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.459G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+24G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+24G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+24G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+24G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+24G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+24G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+24G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+24G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+24G>A
  variant of: http://identifiers.org/hgnc/15888
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13235
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16496
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9792
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5324
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7317
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12530
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

20-62321243-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321243
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321243
    reference: chr 20
allele count: 6
allele frequency: 5.769230769230769e-5
allele num: 104000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+25C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+25C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+25C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.460C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+25C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+25C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+25C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+25C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+25C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+25C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9340
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9751
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13179
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD

20-62321244-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321244
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321244
    reference: chr 20
allele count: 3
allele frequency: 2.912225522744481e-5
allele num: 103014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+26G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+26G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+26G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+26G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+26G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+26G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.461G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+26G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+26G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+26G>A
  variant of: http://identifiers.org/hgnc/15888
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9461
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13846
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

20-62321246-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321246
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321246
    reference: chr 20
allele count: 4
allele frequency: 3.909456976425974e-5
allele num: 102316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+28C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+28C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+28C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.463C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+28C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+28C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+28C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+28C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+28C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+28C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8390
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14268
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9470
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

20-62321247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321247
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321247
    reference: chr 20
allele count: 2
allele frequency: 1.953582870985387e-5
allele num: 102376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+29G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+29G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+29G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+29G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+29G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.464G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+29G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+29G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+29G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+29G>A
  variant of: http://identifiers.org/hgnc/44095
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16524
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9582
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

20-62321250-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321250
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321250
    reference: chr 20
allele count: 4
allele frequency: 3.947732027949943e-5
allele num: 101324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+32A>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+32A>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+32A>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+32A>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+32A>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+32A>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+32A>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.467A>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+32A>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+32A>T
  variant of: http://identifiers.org/hgnc/44095
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15057
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9425
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7477
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5535
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7881
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

20-62321253-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321253
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321253
    reference: chr 20
allele count: 1
allele frequency: 9.922800611244517e-6
allele num: 100778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+35G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+35G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+35G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+35G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+35G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+35G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.470G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+35G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+35G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+35G>A
  variant of: http://identifiers.org/hgnc/44095
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11084
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

20-62321253-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321253
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321253
    reference: chr 20
allele count: 1
allele frequency: 9.922800611244517e-6
allele num: 100778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+35G>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+35G>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+35G>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+35G>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+35G>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+35G>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+35G>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.470G>C
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+35G>C
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+35G>C
  variant of: http://identifiers.org/hgnc/44095
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16168
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-62321254-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321254
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321253
    reference: chr 20
allele count: 1
allele frequency: 9.926543577526305e-6
allele num: 100740
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+37delA
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+37delA
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.472delA
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+37delA
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+37delA
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+37delA
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+37delA
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+37delA
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+37delA
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+37delA
  variant of: http://identifiers.org/hgnc/44095
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5631
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: GA
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

20-62321257-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321257
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321257
    reference: chr 20
allele count: 213
allele frequency: 2.125536373615408e-3
allele num: 100210
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+39A>G
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+39A>G
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+39A>G
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+39A>G
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+39A>G
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.474A>G
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+39A>G
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+39A>G
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+39A>G
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+39A>G
  variant of: http://identifiers.org/hgnc/15888
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 2.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 15580
  bin: 1.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 6193
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15949
  bin: 1.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 9.75e1
  variant carriers: 196
num of homozygotes: 2
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

20-62321258-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321258
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321258
    reference: chr 20
allele count: 6
allele frequency: 6.040471156750227e-5
allele num: 99330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+40C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+40C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+40C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+40C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.475C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+40C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+40C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+40C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+40C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+40C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15811
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10162
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7362
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15753
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

20-62321259-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321259
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321259
    reference: chr 20
allele count: 4
allele frequency: 4.030632809351068e-5
allele num: 99240
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+41G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+41G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+41G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+41G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+41G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+41G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+41G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.476G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+41G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+41G>A
  variant of: http://identifiers.org/hgnc/44095
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15810
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

20-62321266-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321266
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321266
    reference: chr 20
allele count: 2
allele frequency: 2.033925883740796e-5
allele num: 98332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.483C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+48C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+48C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+48C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+48C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+48C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+48C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+48C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+48C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+48C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11480
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14702
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5436
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

20-62321269-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321269
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321269
    reference: chr 20
allele count: 1
allele frequency: 1.009407679573626e-5
allele num: 99068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+51C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+51C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+51C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.486C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+51C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+51C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+51C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+51C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+51C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+51C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14251
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

20-62321270-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321270
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321270
    reference: chr 20
allele count: 1
allele frequency: 1.005126143330988e-5
allele num: 99490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2141+52A>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+52A>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2141+52A>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2226+52A>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2141+52A>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.487A>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2213+52A>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.20+52A>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2141+52A>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.320+52A>T
  variant of: http://identifiers.org/hgnc/15888
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15456
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14010
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6404
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

20-62321400-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321400
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321400
    reference: chr 20
allele count: 1
allele frequency: 8.438248894589395e-6
allele num: 118508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2142-40C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.321-40C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.21-40C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2142-40C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.617C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2214-40C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2142-40C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+182C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2142-40C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.-164C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2227-40C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12888
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

20-62321401-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62321401
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62321401
    reference: chr 20
allele count: 29
allele frequency: 2.443339792737383e-4
allele num: 118690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000496281
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000496281.1:n.618G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000388063
  ensembl transcript: ENST00000425905
  gene symbol: RTEL1
  hgvsc: ENST00000425905.1:c.321-39G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.2214-39G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359020
  ensembl transcript: ENST00000370003
  gene symbol: RTEL1
  hgvsc: ENST00000370003.1:c.-163G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl transcript: ENST00000480273
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000480273.1:n.2227-39G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.2142-39G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.2142-39G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.2142-39G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.2225+183G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000425576
  ensembl transcript: ENST00000496816
  gene symbol: RTEL1
  hgvsc: ENST00000496816.1:c.21-39G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.2142-39G>A
  variant of: http://identifiers.org/hgnc/44095
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8213
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12100
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

22-42390340-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390340
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390340
    reference: chr 22
allele count: 2
allele frequency: 1.661874927292972e-5
allele num: 120346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*365C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*449C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.912C>T
  hgvsp: ENST00000396426.3:c.912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.720C>T
  hgvsp: ENST00000406029.1:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.720C>T
  hgvsp: ENST00000291236.11:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.912C>T
  hgvsp: ENST00000396425.3:c.912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3676
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22142
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val304Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

22-42390346-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390346
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390346
    reference: chr 22
allele count: 7
allele frequency: 5.815499135982985e-5
allele num: 120368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.725+1G>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*370+1G>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.917+1G>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*454+1G>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.917+1G>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.725+1G>T
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12413
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5153
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11727
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3676
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
hgvs: c.917+1G>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

22-42390360-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390360
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390360
    reference: chr 22
allele count: 1
allele frequency: 8.308546170591069e-6
allele num: 120358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.917+15C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*370+15C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.725+15C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*454+15C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.725+15C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.917+15C>T
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11723
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

22-42390364-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390364
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390364
    reference: chr 22
allele count: 1
allele frequency: 8.308408109006315e-6
allele num: 120360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.917+19A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.725+19A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.917+19A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*370+19A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*454+19A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.725+19A>G
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15906
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

22-42390366-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390366
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390365
    reference: chr 22
allele count: 17
allele frequency: 1.412593688199026e-4
allele num: 120346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.725+22delT
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*454+22delT
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.917+22delT
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.917+22delT
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.725+22delT
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*370+22delT
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15886
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11739
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4179
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: CT
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

22-42390367-TGTCCAGACAGCAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390367
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390354
    reference: chr 22
allele count: 1
allele frequency: 8.311446524153063e-6
allele num: 120316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 12403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21517
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4179
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: TGTCCAGACAGCAG
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

22-42390375-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390375
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390375
    reference: chr 22
allele count: 1
allele frequency: 8.310479514667997e-6
allele num: 120330
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.917+30C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.917+30C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.725+30C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*370+30C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*454+30C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.725+30C>T
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11723
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4170
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

22-42390377-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390377
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390377
    reference: chr 22
allele count: 2
allele frequency: 1.662289304830613e-5
allele num: 120316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*454+32G>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.917+32G>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.725+32G>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.917+32G>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*370+32G>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.725+32G>A
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12376
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11724
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

22-42390388-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390388
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390388
    reference: chr 22
allele count: 1
allele frequency: 8.315593400745077e-6
allele num: 120256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*370+43T>C
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.725+43T>C
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.917+43T>C
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*454+43T>C
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.917+43T>C
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.725+43T>C
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11718
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5079
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17452
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD

22-42390393-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390393
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390393
    reference: chr 22
allele count: 14
allele frequency: 1.164977449365087e-4
allele num: 120174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*370+48G>C
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.917+48G>C
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*454+48G>C
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.917+48G>C
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.725+48G>C
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.725+48G>C
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14306
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12192
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7519
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11727
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

22-42390583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390583
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390583
    reference: chr 22
allele count: 1
allele frequency: 8.32639467110741e-6
allele num: 120100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*371-42C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*455-42C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.918-42C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.918-42C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.726-42C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.726-42C>T
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46141
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

22-42390586-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390586
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390586
    reference: chr 22
allele count: 1
allele frequency: 8.324038157390913e-6
allele num: 120134
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.918-39C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.918-39C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.726-39C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*455-39C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*371-39C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.726-39C>T
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5507
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

22-42390589-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390589
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390589
    reference: chr 22
allele count: 1
allele frequency: 8.323068215867098e-6
allele num: 120148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.726-36A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*371-36A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.918-36A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.726-36A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.918-36A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*455-36A>G
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46151
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

22-42390591-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390591
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390591
    reference: chr 22
allele count: 1
allele frequency: 8.322929671244279e-6
allele num: 120150
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.918-34T>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.726-34T>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.918-34T>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*455-34T>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.726-34T>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*371-34T>A
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46149
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

22-42390592-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390592
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390592
    reference: chr 22
allele count: 1
allele frequency: 8.323345318950592e-6
allele num: 120144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*455-33G>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.918-33G>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.918-33G>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.726-33G>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.726-33G>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*371-33G>T
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

22-42390595-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390595
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390595
    reference: chr 22
allele count: 1
allele frequency: 8.322652595835345e-6
allele num: 120154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.726-30G>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.918-30G>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.918-30G>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*455-30G>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.726-30G>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*371-30G>T
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/22-42390596-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390596
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390596
    reference: chr 22
allele count: 1
allele frequency: 8.322375538873816e-6
allele num: 120158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.726-29C>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.726-29C>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*371-29C>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.918-29C>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*455-29C>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.918-29C>A
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46147
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-42390598-CTCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390598
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390595
    reference: chr 22
allele count: 1
allele frequency: 8.320159747067144e-6
allele num: 120190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.726-20_726-18delTCT
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.918-20_918-18delTCT
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*455-20_*455-18delTCT
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.726-20_726-18delTCT
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.918-20_918-18delTCT
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*371-20_*371-18delTCT
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4813
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: CTCT
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

22-42390599-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390599
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390599
    reference: chr 22
allele count: 1
allele frequency: 8.319882856049386e-6
allele num: 120194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.918-26T>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*455-26T>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.726-26T>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*371-26T>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.726-26T>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.918-26T>G
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46152
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

22-42390607-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390607
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390607
    reference: chr 22
allele count: 1
allele frequency: 8.318360284820657e-6
allele num: 120216
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.918-18T>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.726-18T>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.918-18T>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*455-18T>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*371-18T>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.726-18T>A
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5757
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46155
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

22-42390610-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390610
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390610
    reference: chr 22
allele count: 1
allele frequency: 8.318083513558476e-6
allele num: 120220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*455-15C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.918-15C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*371-15C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.726-15C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.726-15C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.918-15C>T
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4937
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46155
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

22-42390611-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390611
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390611
    reference: chr 22
allele count: 1
allele frequency: 8.317391665973551e-6
allele num: 120230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.918-14C>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*455-14C>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.726-14C>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*371-14C>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.918-14C>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.726-14C>G
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46155
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4930
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-42390611-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390611
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390609
    reference: chr 22
allele count: 1
allele frequency: 8.317391665973551e-6
allele num: 120230
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.918-13_918-12delCT
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.726-13_726-12delCT
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.726-13_726-12delCT
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.918-13_918-12delCT
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*455-13_*455-12delCT
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*371-13_*371-12delCT
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46155
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: CCT
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

22-42390631-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390631
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390631
    reference: chr 22
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.732C>T
  hgvsp: ENST00000291236.11:c.732C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.924C>T
  hgvsp: ENST00000396425.3:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*377C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.924C>T
  hgvsp: ENST00000396426.3:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*461C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.732C>T
  hgvsp: ENST00000406029.1:c.732C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His308His
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

22-42390642-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390642
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390642
    reference: chr 22
allele count: 1
allele frequency: 8.304958059961797e-6
allele num: 120410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.743T>G
  hgvsp: ENSP00000383956.1:p.Leu248Arg
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.935T>G
  hgvsp: ENSP00000379704.3:p.Leu312Arg
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*388T>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.743T>G
  hgvsp: ENSP00000291236.11:p.Leu248Arg
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*472T>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.935T>G
  hgvsp: ENSP00000379703.3:p.Leu312Arg
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46160
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu312Arg
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

22-42390669-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390669
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390669
    reference: chr 22
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*499A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*415A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.770A>G
  hgvsp: ENSP00000291236.11:p.Tyr257Cys
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.962A>G
  hgvsp: ENSP00000379703.3:p.Tyr321Cys
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.770A>G
  hgvsp: ENSP00000383956.1:p.Tyr257Cys
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.962A>G
  hgvsp: ENSP00000379704.3:p.Tyr321Cys
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr321Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

22-42390689-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390689
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390689
    reference: chr 22
allele count: 2
allele frequency: 1.657934876318058e-5
allele num: 120632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.790C>T
  hgvsp: ENSP00000291236.11:p.Arg264Trp
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.982C>T
  hgvsp: ENSP00000379703.3:p.Arg328Trp
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.790C>T
  hgvsp: ENSP00000383956.1:p.Arg264Trp
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*519C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.982C>T
  hgvsp: ENSP00000379704.3:p.Arg328Trp
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*435C>T
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46162
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5203
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg328Trp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

22-42390690-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390690
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390690
    reference: chr 22
allele count: 2
allele frequency: 1.657824933687002e-5
allele num: 120640
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.983G>A
  hgvsp: ENSP00000379704.3:p.Arg328Gln
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.983G>A
  hgvsp: ENSP00000379703.3:p.Arg328Gln
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*520G>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*436G>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.791G>A
  hgvsp: ENSP00000383956.1:p.Arg264Gln
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.791G>A
  hgvsp: ENSP00000291236.11:p.Arg264Gln
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg328Gln
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

22-42390697-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390697
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390697
    reference: chr 22
allele count: 1
allele frequency: 8.289399515899069e-6
allele num: 120636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*527T>C
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*443T>C
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.990T>C
  hgvsp: ENST00000396426.3:c.990T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.798T>C
  hgvsp: ENST00000291236.11:c.798T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.990T>C
  hgvsp: ENST00000396425.3:c.990T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.798T>C
  hgvsp: ENST00000406029.1:c.798T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46163
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn330Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

22-42390715-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390715
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390715
    reference: chr 22
allele count: 1
allele frequency: 8.2917364554485e-6
allele num: 120602
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.1008T>G
  hgvsp: ENST00000396426.3:c.1008T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.816T>G
  hgvsp: ENST00000406029.1:c.816T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*545T>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*461T>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.816T>G
  hgvsp: ENST00000291236.11:c.816T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.1008T>G
  hgvsp: ENST00000396425.3:c.1008T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro336Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

22-42390718-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390718
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390718
    reference: chr 22
allele count: 2
allele frequency: 1.658457303016734e-5
allele num: 120594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.819G>A
  hgvsp: ENST00000406029.1:c.819G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.1011G>A
  hgvsp: ENST00000396426.3:c.1011G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*548G>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.1011G>A
  hgvsp: ENST00000396425.3:c.1011G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.819G>A
  hgvsp: ENST00000291236.11:c.819G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*464G>A
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1011G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

22-42390724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390724
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390724
    reference: chr 22
allele count: 1
allele frequency: 8.29228651508367e-6
allele num: 120594
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.1011+6C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*464+6C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.825C>T
  hgvsp: ENST00000291236.11:c.825C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.819+6C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*548+6C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.1017C>T
  hgvsp: ENST00000396425.3:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1011+6C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/22-42390733-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390733
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390733
    reference: chr 22
allele count: 2
allele frequency: 1.658457303016734e-5
allele num: 120594
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.834A>C
  hgvsp: ENST00000291236.11:c.834A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.1011+15A>C
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*464+15A>C
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*548+15A>C
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.1026A>C
  hgvsp: ENST00000396425.3:c.1026A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.819+15A>C
  variant of: http://identifiers.org/hgnc/10750
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr278Thr
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

22-42390733-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390733
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390733
    reference: chr 22
allele count: 1
allele frequency: 8.29228651508367e-6
allele num: 120594
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.834A>G
  hgvsp: ENST00000291236.11:c.834A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*548+15A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.819+15A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*464+15A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.1026A>G
  hgvsp: ENST00000396425.3:c.1026A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.1011+15A>G
  variant of: http://identifiers.org/hgnc/10750
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46162
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr278Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

22-42390745-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390745
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390745
    reference: chr 22
allele count: 1
allele frequency: 8.295863682367972e-6
allele num: 120542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*464+27C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.1038C>T
  hgvsp: ENST00000396425.3:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.1011+27C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.846C>T
  hgvsp: ENST00000291236.11:c.846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*548+27C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.819+27C>T
  variant of: http://identifiers.org/hgnc/10750
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46160
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His282His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

22-42390746-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390746
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390746
    reference: chr 22
allele count: 33
allele frequency: 2.73768043802887e-4
allele num: 120540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.847G>A
  hgvsp: ENSP00000291236.11:p.Asp283Asn
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.1039G>A
  hgvsp: ENSP00000379703.3:p.Asp347Asn
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*548+28G>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*464+28G>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.1011+28G>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.819+28G>A
  variant of: http://identifiers.org/hgnc/10750
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp283Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

22-42390747-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390747
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390747
    reference: chr 22
allele count: 3
allele frequency: 2.488924286923192e-5
allele num: 120534
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.1011+29A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*548+29A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.848A>G
  hgvsp: ENSP00000291236.11:p.Asp283Gly
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.819+29A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.1040A>G
  hgvsp: ENSP00000379703.3:p.Asp347Gly
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*464+29A>G
  variant of: http://identifiers.org/hgnc/10750
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp283Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-42390761-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390761
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390761
    reference: chr 22
allele count: 4
allele frequency: 3.320824892903397e-5
allele num: 120452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.*1C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*548+43C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.*1C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*464+43C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.1011+43C>T
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.819+43C>T
  variant of: http://identifiers.org/hgnc/10750
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

22-42390769-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390769
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390769
    reference: chr 22
allele count: 2
allele frequency: 1.66096402351925e-5
allele num: 120412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.1011+51T>C
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.*9T>C
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.819+51T>C
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*548+51T>C
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*464+51T>C
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.*9T>C
  variant of: http://identifiers.org/hgnc/10750
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

22-42390774-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390774
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390774
    reference: chr 22
allele count: 1
allele frequency: 8.308546170591069e-6
allele num: 120358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*548+56G>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.*14G>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.1011+56G>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.*14G>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.819+56G>A
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*464+56G>A
  variant of: http://identifiers.org/hgnc/10750
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

22-42390782-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42390782
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 42390782
    reference: chr 22
allele count: 1
allele frequency: 8.312137383006666e-6
allele num: 120306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379695
  ensembl transcript: ENST00000396417
  gene symbol: SEPT3
  hgvsc: ENST00000396417.2:c.*464+64A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000383956
  ensembl transcript: ENST00000406029
  gene symbol: SEPT3
  hgvsc: ENST00000406029.1:c.819+64A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000332866
  ensembl transcript: ENST00000328414
  gene symbol: SEPT3
  hgvsc: ENST00000328414.8:c.*548+64A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000291236
  ensembl transcript: ENST00000291236
  gene symbol: SEPT3
  hgvsc: ENST00000291236.11:c.*22A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379703
  ensembl transcript: ENST00000396425
  gene symbol: SEPT3
  hgvsc: ENST00000396425.3:c.*22A>G
  variant of: http://identifiers.org/hgnc/10750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100167
  ensembl protein: ENSP00000379704
  ensembl transcript: ENST00000396426
  gene symbol: SEPT3
  hgvsc: ENST00000396426.3:c.1011+64A>G
  variant of: http://identifiers.org/hgnc/10750
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46151
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4385
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
reference allele: A

GenotypeQuality
all individuals: 337
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40141
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1501
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2020
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 138
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1814
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7614
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.571240022625856e-5
allele num: 63644
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.649e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.17e-1

DP
type: SiteQuality
SIO_000300: 1.549309e6

FS
type: SiteQuality
SIO_000300: 1.083e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2010
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1801
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1500
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 470
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7561
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.719058705090291e-5
allele num: 63572
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.261e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.768e0

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.468e1

DP
type: SiteQuality
SIO_000300: 1.544178e6

MQ
type: SiteQuality
SIO_000300: 5.94e1

GenotypeQuality
all individuals: 493
bin: 2.75e1
variant carriers: 8

GenotypeQuality
all individuals: 51
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1437
bin: 7.25e1
variant carriers: 17

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 8

GenotypeQuality
all individuals: 463
bin: 3.25e1
variant carriers: 15

GenotypeQuality
all individuals: 180
bin: 9.25e1
variant carriers: 34

GenotypeQuality
all individuals: 211
bin: 5.75e1
variant carriers: 13

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 23

GenotypeQuality
all individuals: 6262
bin: 6.75e1
variant carriers: 17

GenotypeQuality
all individuals: 139
bin: 4.25e1
variant carriers: 15

GenotypeQuality
all individuals: 2580
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 270
bin: 5.25e1
variant carriers: 14

GenotypeQuality
all individuals: 204
bin: 4.75e1
variant carriers: 8

GenotypeQuality
all individuals: 9140
bin: 9.75e1
variant carriers: 8826

GenotypeQuality
all individuals: 36173
bin: 6.25e1
variant carriers: 18

GenotypeQuality
all individuals: 297
bin: 3.75e1
variant carriers: 8

Other
type: Population
allele count: 78
allele frequency: 9.285714285714286e-2
allele num: 840
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 558
allele frequency: 9.371850856567014e-2
allele num: 5954
num of homozygotes: 23

African
type: Population
allele count: 145
allele frequency: 1.501968096125958e-2
allele num: 9654
num of homozygotes: 0

Latino
type: Population
allele count: 601
allele frequency: 5.312942008486563e-2
allele num: 11312
num of homozygotes: 17

European (Non-Finnish)
type: Population
allele count: 6123
allele frequency: 9.630386914123938e-2
allele num: 63580
num of homozygotes: 298

South Asian
type: Population
allele count: 1991
allele frequency: 1.216100659662839e-1
allele num: 16372
num of homozygotes: 134

East Asian
type: Population
allele count: 3
allele frequency: 3.568030447193149e-4
allele num: 8408
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.681807e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

FS
type: SiteQuality
SIO_000300: 5.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.69e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.061e0

QD
type: SiteQuality
SIO_000300: 1.348e1

GenotypeQuality
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1321
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3202
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7735
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 9.75e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579180089697429e-5
allele num: 63324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.224289911851126e-4
allele num: 16336
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.32e-1

DP
type: SiteQuality
SIO_000300: 1.506352e6

FS
type: SiteQuality
SIO_000300: 9.58e-1

QD
type: SiteQuality
SIO_000300: 1.687e1

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

GenotypeQuality
all individuals: 4027
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40215
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7365
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1702
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16274
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.195600191296031e-4
allele num: 8364
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.485051e6

FS
type: SiteQuality
SIO_000300: 1.328e0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-2

MQ
type: SiteQuality
SIO_000300: 5.915e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

QD
type: SiteQuality
SIO_000300: 9.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

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

GenotypeQuality
all individuals: 457
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 637
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2370
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8125
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2163
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 386
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33774
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5987
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1371
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.775568181818182e-4
allele num: 5632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16030
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10908
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.8e0

DP
type: SiteQuality
SIO_000300: 1.374154e6

MQ
type: SiteQuality
SIO_000300: 5.829e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 4.434e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.402e0

QD
type: SiteQuality
SIO_000300: 1.426e1

GenotypeQuality
all individuals: 1478
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5901
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 970
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32338
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8868
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2723
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 629
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61190
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.249218847644044e-5
allele num: 16002
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.350768e6

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.957e0

QD
type: SiteQuality
SIO_000300: 1.514e1

GenotypeQuality
all individuals: 150
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5672
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29900
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1769
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 9530
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2739
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.139126067302863e-4
allele num: 15928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60796
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.325825e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: -3.44e-1

FS
type: SiteQuality
SIO_000300: 1.524e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

QD
type: SiteQuality
SIO_000300: 1.242e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3555
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 380
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1438
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5315
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27431
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3027
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10095
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2038
bin: 3.75e1
variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.252191334835963e-4
allele num: 7986
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.096250822188117e-4
allele num: 9122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5542
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15880
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

FS
type: SiteQuality
SIO_000300: 4.534e0

DP
type: SiteQuality
SIO_000300: 1.30123e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.529e-1

QD
type: SiteQuality
SIO_000300: 6.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-2

GenotypeQuality
all individuals: 150
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 1
allele frequency: 1.107419712070875e-4
allele num: 9030
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.34213428695565e-5
allele num: 59842
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

QD
type: SiteQuality
SIO_000300: 1.717e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.570000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.639e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.245572e6

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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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15682
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.125112511251125e-4
allele num: 8888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59134
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.638e1

FS
type: SiteQuality
SIO_000300: 3.152e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.741e0

MQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

DP
type: SiteQuality
SIO_000300: 1.196739e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 143
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variant carriers: 0

GenotypeQuality
all individuals: 2905
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.729804532087874e-5
allele num: 57810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15560
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.897e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.088e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.09e0

DP
type: SiteQuality
SIO_000300: 1.108248e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

GenotypeQuality
all individuals: 2216
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1456
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 7114
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variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57122
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.83671060397403e-5
allele num: 10166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5174
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.51e-1

FS
type: SiteQuality
SIO_000300: 8.256e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.83e-1

QD
type: SiteQuality
SIO_000300: 1.444e1

DP
type: SiteQuality
SIO_000300: 1.083645e6

GenotypeQuality
all individuals: 369
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1936
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GenotypeQuality
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variant carriers: 13

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2717
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.17343346632246e-4
allele num: 8522
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.294665976178146e-4
allele num: 15448
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 9.900990099009901e-4
allele num: 10100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.764539808018069e-5
allele num: 56672
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7426
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.688e0

QD
type: SiteQuality
SIO_000300: 1.236e1

DP
type: SiteQuality
SIO_000300: 1.066945e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.679999999999999e-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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GenotypeQuality
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variant carriers: 6

GenotypeQuality
all individuals: 363
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.345532831001076e-4
allele num: 7432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15404
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.982160555004955e-4
allele num: 10090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.294179931528607e-5
allele num: 56666
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.259e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.065138e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.064e0

VQSLOD
type: SiteQuality
SIO_000300: 8.22e-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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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5046
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.566206626011911e-5
allele num: 56082
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

FS
type: SiteQuality
SIO_000300: 7.82e-1

QD
type: SiteQuality
SIO_000300: 1.354e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.049571e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.19e-1

GenotypeQuality
all individuals: 2261
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 375
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7218
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.549646319098769e-5
allele num: 15268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.38483630097645e-5
allele num: 55712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5034
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

QD
type: SiteQuality
SIO_000300: 1.329e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

FS
type: SiteQuality
SIO_000300: 7.823e0

DP
type: SiteQuality
SIO_000300: 1.038198e6

GenotypeQuality
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5447
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12903
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.587572648346129e-5
allele num: 55748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15294
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

FS
type: SiteQuality
SIO_000300: 6.855e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 1.036049e6

GenotypeQuality
all individuals: 1416
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 9.75e1
variant carriers: 4

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11441
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.631578947368421e-4
allele num: 15200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7114
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55194
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.203e0

VQSLOD
type: SiteQuality
SIO_000300: 5.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 1.696e0

QD
type: SiteQuality
SIO_000300: 1.444e1

MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.019535e6

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4950
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7054
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54870
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.595435958316844e-5
allele num: 15162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.088e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

QD
type: SiteQuality
SIO_000300: 5.29e0

FS
type: SiteQuality
SIO_000300: 2.99e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.009755e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

GenotypeQuality
all individuals: 2782
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
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variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 460
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GenotypeQuality
all individuals: 2381
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7972
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2326
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.822489520685256e-5
allele num: 54870
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.088e0

QD
type: SiteQuality
SIO_000300: 5.29e0

FS
type: SiteQuality
SIO_000300: 2.99e0

DP
type: SiteQuality
SIO_000300: 1.009755e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

GenotypeQuality
all individuals: 1076
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 2.5e0
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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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1466
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.821095571095571e-5
allele num: 54912
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7018
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.31e0

DP
type: SiteQuality
SIO_000300: 1.0061e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 1.353e1

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 5

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 4.123711340206186e-4
allele num: 9700
num of homozygotes: 0

African
type: Population
allele count: 209
allele frequency: 2.549402293242254e-2
allele num: 8198
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4916
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6980
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 9.99485e5

FS
type: SiteQuality
SIO_000300: 5.54e-1

QD
type: SiteQuality
SIO_000300: 1.332e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.19e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 145
bin: 9.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4884
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.68002672010688e-5
allele num: 14970
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.23334977799704e-4
allele num: 8108
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
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East Asian
type: Population
allele count: 4
allele frequency: 5.790387955993051e-4
allele num: 6908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54160
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.252e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.6457e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

QD
type: SiteQuality
SIO_000300: 1.429e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

DP
type: SiteQuality
SIO_000300: 9.95826e5

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 374
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2709
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.849249204822842e-5
allele num: 54076
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.664889362836577e-5
allele num: 15004
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.091175240485153e-4
allele num: 9564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6890
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

DP
type: SiteQuality
SIO_000300: 9.96122e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.078e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

GenotypeQuality
all individuals: 547
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3688
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 157
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.731482518004403e-5
allele num: 53598
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4892
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6834
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

FS
type: SiteQuality
SIO_000300: 4.388e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.58e-1

DP
type: SiteQuality
SIO_000300: 9.98561e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e0

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.143e0

QD
type: SiteQuality
SIO_000300: 1.373e1

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-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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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: 14870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9626
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.851166234727879e-5
allele num: 54020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4920
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6854
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

MQ
type: SiteQuality
SIO_000300: 5.801e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.346e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

DP
type: SiteQuality
SIO_000300: 1.006829e6

QD
type: SiteQuality
SIO_000300: 2.009e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.98e-1

FS
type: SiteQuality
SIO_000300: 6.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.678e0

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: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 419
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variant carriers: 0

GenotypeQuality
all individuals: 2195
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.447596988998263e-4
allele num: 6908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.593e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 1.010154e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.0e-2

QD
type: SiteQuality
SIO_000300: 1.077e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
all individuals: 3832
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
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GenotypeQuality
all individuals: 18610
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 188
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variant carriers: 0

GenotypeQuality
all individuals: 4296
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541402059313151e-5
allele num: 64876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15852
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: -6.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.502e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.01e-1

DP
type: SiteQuality
SIO_000300: 2.220822e6

VQSLOD
type: SiteQuality
SIO_000300: 4.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.168e1

GenotypeQuality
all individuals: 13538
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 29

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4339
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.811616954474098e-5
allele num: 10192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.157299910695039e-4
allele num: 64946
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.276675872457946e-5
allele num: 15932
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.13e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.224266e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.23e1

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
all individuals: 53
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 11724
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 38
bin: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.217285453438831e-4
allele num: 16430
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.51e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

FS
type: SiteQuality
SIO_000300: 4.758e0

DP
type: SiteQuality
SIO_000300: 2.024498e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.277e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 22122
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.077155824508321e-4
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511350240304688e-5
allele num: 66166
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.939e1

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.235e1

DP
type: SiteQuality
SIO_000300: 2.024527e6

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.185e0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 80
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GenotypeQuality
all individuals: 21827
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GenotypeQuality
all individuals: 39
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GenotypeQuality
all individuals: 4183
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GenotypeQuality
all individuals: 145
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66166
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.087909411907951e-5
allele num: 16426
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: 7.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-1

FS
type: SiteQuality
SIO_000300: 2.887e0

QD
type: SiteQuality
SIO_000300: 1.804e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.693e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

VQSLOD
type: SiteQuality
SIO_000300: -7.925e-1

DP
type: SiteQuality
SIO_000300: 2.022279e6

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

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3652
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11724
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5143
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.828975820719482e-5
allele num: 10174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66166
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.803e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

DP
type: SiteQuality
SIO_000300: 2.020963e6

QD
type: SiteQuality
SIO_000300: 1.47e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.15e-1

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3643
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8214
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21622
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2737
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5142
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 17
allele frequency: 1.480320445837687e-3
allele num: 11484
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66162
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
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: 16424
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.116e0

MQ
type: SiteQuality
SIO_000300: 6.025e1

FS
type: SiteQuality
SIO_000300: 6.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

QD
type: SiteQuality
SIO_000300: 1.639e1

VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

DP
type: SiteQuality
SIO_000300: 2.020833e6

GenotypeQuality
all individuals: 5142
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2739
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11722
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.162790697674419e-4
allele num: 8600
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66160
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.976e-1

FS
type: SiteQuality
SIO_000300: 8.459e0

QD
type: SiteQuality
SIO_000300: 2.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

MQRankSum
type: SiteQuality
SIO_000300: -4.238e0

DP
type: SiteQuality
SIO_000300: 2.019076e6

MQ
type: SiteQuality
SIO_000300: 5.374e1

GenotypeQuality
all individuals: 745
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5125
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3627
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2738
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2010
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
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: 1.511715797430083e-5
allele num: 66150
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.68e-1

MQ
type: SiteQuality
SIO_000300: 5.839e1

VQSLOD
type: SiteQuality
SIO_000300: -1.012e0

FS
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.79e-1

DP
type: SiteQuality
SIO_000300: 2.012577e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.238e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.098e1

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8104
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2738
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20225
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023980162690133e-5
allele num: 66138
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.692e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.409e1

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

DP
type: SiteQuality
SIO_000300: 2.011165e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.07e-1

GenotypeQuality
all individuals: 464
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4149
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7757
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3568
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2734
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.838646202282565e-5
allele num: 10164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.809e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 1.995289e6

VQSLOD
type: SiteQuality
SIO_000300: -7.271e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.25e0

QD
type: SiteQuality
SIO_000300: 1.113e1

GenotypeQuality
all individuals: 1556
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 500
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5039
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3533
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2731
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2230
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 9
allele frequency: 8.858267716535433e-4
allele num: 10160
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.618257985686857e-4
allele num: 11458
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66064
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.220256253813301e-4
allele num: 16390
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.596e0

FS
type: SiteQuality
SIO_000300: 9.05e-1

DP
type: SiteQuality
SIO_000300: 1.991251e6

QD
type: SiteQuality
SIO_000300: 1.397e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e-1

GenotypeQuality
all individuals: 1124
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1982
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514738404677512e-5
allele num: 66018
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.44e0

FS
type: SiteQuality
SIO_000300: 3.733e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-1

QD
type: SiteQuality
SIO_000300: 1.135e1

DP
type: SiteQuality
SIO_000300: 3.349333e6

GenotypeQuality
all individuals: 111
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4417
bin: 6.25e1
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: 8600
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514463122822959e-5
allele num: 66030
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 8.210000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.608e0

VQSLOD
type: SiteQuality
SIO_000300: -1.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.29e-1

DP
type: SiteQuality
SIO_000300: 3.351274e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

GenotypeQuality
all individuals: 432
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514417252241338e-5
allele num: 66032
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
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: 11498
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.632e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.394e0

FS
type: SiteQuality
SIO_000300: 9.029999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.721e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.352505e6

QD
type: SiteQuality
SIO_000300: 2.178e1

GenotypeQuality
all individuals: 426
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

East Asian
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allele count: 1
allele frequency: 1.162790697674419e-4
allele num: 8600
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66036
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.505e0

MQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

FS
type: SiteQuality
SIO_000300: 1.016e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 3.353102e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.75e1
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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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.514646632940535e-5
allele num: 66022
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.092e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
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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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variant carriers: 0

African
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allele count: 1
allele frequency: 9.887284951552304e-5
allele num: 10114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66036
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

European (Finnish)
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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: 11498
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

MQ
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SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.013e0

ReadPosRankSum
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SIO_000300: 1.0e0

FS
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.502e0

DP
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SIO_000300: 3.355038e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514187941007238e-5
allele num: 66042
num of homozygotes: 0

European (Finnish)
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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: 11498
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.355783e6

InbreedingCoeff
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SIO_000300: 2.4e-3

MQRankSum
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QD
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.94e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.88e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51372952680815e-5
allele num: 66062
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: 11498
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.07e-1

QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 7.52e-1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.501e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

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
all individuals: 1006
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66060
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.645e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.325e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
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bin: 6.75e1
variant carriers: 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: 11498
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66072
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 896
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South Asian
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allele frequency: 6.091617933723197e-5
allele num: 16416
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8602
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.697164724299878e-5
allele num: 11498
num of homozygotes: 0

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

European (Finnish)
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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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South Asian
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allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66078
num of homozygotes: 0

InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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ClippingRankSum
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FS
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QD
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VQSLOD
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MQRankSum
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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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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66086
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

South Asian
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allele frequency: 6.091617933723197e-5
allele num: 16416
num of homozygotes: 0

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

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

Other
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African
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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allele frequency: 6.091617933723197e-5
allele num: 16416
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
allele num: 10140
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European (Non-Finnish)
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allele frequency: 1.511350240304688e-5
allele num: 66166
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.234e1

VQSLOD
type: SiteQuality
SIO_000300: 4.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.81e0

DP
type: SiteQuality
SIO_000300: 3.361555e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.083e0

MQ
type: SiteQuality
SIO_000300: 5.9e1

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2149
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5089
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510300247689241e-5
allele num: 66212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
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: 896
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.18e-1

FS
type: SiteQuality
SIO_000300: 1.724e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.796e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.267e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.362302e6

GenotypeQuality
all individuals: 5191
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 1500
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variant carriers: 0

GenotypeQuality
all individuals: 46160
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2152
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
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: 8608
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508341126429153e-5
allele num: 66298
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.24e0

FS
type: SiteQuality
SIO_000300: 2.517e0

QD
type: SiteQuality
SIO_000300: 1.357e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.94e-1

DP
type: SiteQuality
SIO_000300: 3.363956e6

GenotypeQuality
all individuals: 2159
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
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: 1.507477086348288e-5
allele num: 66336
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

DP
type: SiteQuality
SIO_000300: 3.364655e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

FS
type: SiteQuality
SIO_000300: 1.116e0

VQSLOD
type: SiteQuality
SIO_000300: 6.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.56e-1

GenotypeQuality
all individuals: 46163
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5213
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2159
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1400
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
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: 16440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.014681498899641e-5
allele num: 66342
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.69e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.850000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 3.364733e6

QD
type: SiteQuality
SIO_000300: 1.282e1

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

GenotypeQuality
all individuals: 2158
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5217
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
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variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 8.25e1
variant carriers: 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: 10212
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: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66332
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.433e0

MQ
type: SiteQuality
SIO_000300: 5.926e1

QD
type: SiteQuality
SIO_000300: 1.302e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.36463e6

FS
type: SiteQuality
SIO_000300: 5.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.942e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.453e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.59e-1

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2152
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
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: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508159140952553e-5
allele num: 66306
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.61e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

FS
type: SiteQuality
SIO_000300: 3.266e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.552e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.09e-1

QD
type: SiteQuality
SIO_000300: 1.144e1

MQRankSum
type: SiteQuality
SIO_000300: 9.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 3.364222e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2149
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 46159
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: 8.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 7.874e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 3.364338e6

QD
type: SiteQuality
SIO_000300: 1.228e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.88e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 2149
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508250128201261e-5
allele num: 66302
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: 16442
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

QD
type: SiteQuality
SIO_000300: 1.13e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.459e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.7e-1

DP
type: SiteQuality
SIO_000300: 3.364166e6

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5117
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46162
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
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: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01659125188537e-5
allele num: 66300
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-2

DP
type: SiteQuality
SIO_000300: 3.363706e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 5.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

QD
type: SiteQuality
SIO_000300: 1.233e1

MQ
type: SiteQuality
SIO_000300: 5.891e1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5117
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1549
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.805844283192783e-5
allele num: 10198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
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: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

FS
type: SiteQuality
SIO_000300: 5.05e-1

MQ
type: SiteQuality
SIO_000300: 5.891e1

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

QD
type: SiteQuality
SIO_000300: 1.233e1

DP
type: SiteQuality
SIO_000300: 3.363706e6

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

GenotypeQuality
all individuals: 58
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1008
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1547
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2122
bin: 6.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.811616954474098e-5
allele num: 10192
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.917e1

DP
type: SiteQuality
SIO_000300: 3.36257e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

FS
type: SiteQuality
SIO_000300: 1.742e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.16e-1

QD
type: SiteQuality
SIO_000300: 1.147e1

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1398
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46161
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 1547
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509115054931788e-5
allele num: 66264
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: 28
allele frequency: 3.251277287505806e-3
allele num: 8612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.604166666666667e-4
allele num: 11520
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

QD
type: SiteQuality
SIO_000300: 1.23e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

MQ
type: SiteQuality
SIO_000300: 5.91e1

DP
type: SiteQuality
SIO_000300: 3.363724e6

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46159
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 1156
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5027
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.527891813571601e-5
allele num: 66256
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

DP
type: SiteQuality
SIO_000300: 3.363002e6

QD
type: SiteQuality
SIO_000300: 1.219e1

MQ
type: SiteQuality
SIO_000300: 5.911e1

FS
type: SiteQuality
SIO_000300: 8.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.75e-1

GenotypeQuality
all individuals: 550
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46156
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1486
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
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: 1
allele frequency: 9.825112988799372e-5
allele num: 10178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
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: 2
allele frequency: 3.020874241005347e-5
allele num: 66206
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: -8.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

QD
type: SiteQuality
SIO_000300: 1.275e1

FS
type: SiteQuality
SIO_000300: 2.573e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

DP
type: SiteQuality
SIO_000300: 3.361075e6

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 4770
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 137
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46155
bin: 9.75e1
variant carriers: 2

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

African
type: Population
allele count: 1
allele frequency: 9.825112988799372e-5
allele num: 10178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.271e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

VQSLOD
type: SiteQuality
SIO_000300: 8.66e-1

DP
type: SiteQuality
SIO_000300: 3.359065e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

FS
type: SiteQuality
SIO_000300: 2.09e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

GenotypeQuality
all individuals: 4691
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46152
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 1
allele frequency: 8.685079034219212e-5
allele num: 11514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
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: 896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66142
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 6.919999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.44e-1

DP
type: SiteQuality
SIO_000300: 3.357993e6

QD
type: SiteQuality
SIO_000300: 1.18e1

MQ
type: SiteQuality
SIO_000300: 5.796e1

VQSLOD
type: SiteQuality
SIO_000300: -1.928e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.695e0

GenotypeQuality
all individuals: 163
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 639
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 3.25e1
variant carriers: 0

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