2-152330448-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330448
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330448
    reference: chr 2
allele count: 1
allele frequency: 8.584133088399403e-6
allele num: 116494
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7018-30G>T
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1917-30G>T
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7096-30G>T
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7096-30G>T
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7018-30G>T
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7018-30G>T
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4509
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

2-152330449-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330449
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330449
    reference: chr 2
allele count: 1
allele frequency: 8.579861349440594e-6
allele num: 116552
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7018-29C>T
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7018-29C>T
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1917-29C>T
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7096-29C>T
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7018-29C>T
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7096-29C>T
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19779
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4523
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22494
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3560
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-152330450-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330450
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330450
    reference: chr 2
allele count: 1
allele frequency: 8.570449091532397e-6
allele num: 116680
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7096-28G>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7018-28G>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1917-28G>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7018-28G>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7096-28G>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7018-28G>A
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22343
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7358
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ

2-152330455-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330455
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330455
    reference: chr 2
allele count: 4
allele frequency: 3.404081493710959e-5
allele num: 117506
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7018-23T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1917-23T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7018-23T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7096-23T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7018-23T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7096-23T>C
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10347
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9866
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS

2-152330457-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330457
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330457
    reference: chr 2
allele count: 79
allele frequency: 6.709585364610759e-4
allele num: 117742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1917-21T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7018-21T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7018-21T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7096-21T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7018-21T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7096-21T>C
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 20616
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14385
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10395
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3854
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4787
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

2-152330460-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330460
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330460
    reference: chr 2
allele count: 1
allele frequency: 8.464533604198409e-6
allele num: 118140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1917-18G>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7018-18G>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7018-18G>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7096-18G>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7096-18G>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7018-18G>A
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4806
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23719
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

2-152330462-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330462
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330463
    reference: chr 2
allele count: 1
allele frequency: 8.438960995122281e-6
allele num: 118498
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7096-14dupC
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7018-14dupC
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7018-14dupC
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7096-14dupC
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7018-14dupC
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1917-14dupC
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7706
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4858
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

2-152330463-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330463
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330463
    reference: chr 2
allele count: 79
allele frequency: 6.659922441409543e-4
allele num: 118620
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7096-15C>T
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7096-15C>T
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7018-15C>T
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7018-15C>T
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1917-15C>T
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7018-15C>T
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21042
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14568
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10612
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7715
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4860
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

2-152330478-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330478
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330478
    reference: chr 2
allele count: 1
allele frequency: 8.366940544520491e-6
allele num: 119518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7018G>T
  hgvsp: ENSP00000416123.2:p.Val2340Leu
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7018G>T
  hgvsp: ENSP00000415691.2:p.Val2340Leu
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7018G>T
  hgvsp: ENSP00000414615.2:p.Val2340Leu
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1917G>T
  hgvsp: ENSP00000404882.2:p.Val640Leu
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7096G>T
  hgvsp: ENSP00000390181.2:p.Val2366Leu
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7096G>T
  hgvsp: ENSP00000243326.4:p.Val2366Leu
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9958
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val2366Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-152330487-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330487
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330487
    reference: chr 2
allele count: 10
allele frequency: 8.346827370916314e-5
allele num: 119806
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7105C>T
  hgvsp: ENSP00000243326.4:p.Arg2369Cys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7105C>T
  hgvsp: ENSP00000390181.2:p.Arg2369Cys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1926C>T
  hgvsp: ENSP00000404882.2:p.Arg643Cys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7027C>T
  hgvsp: ENSP00000416123.2:p.Arg2343Cys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7027C>T
  hgvsp: ENSP00000415691.2:p.Arg2343Cys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7027C>T
  hgvsp: ENSP00000414615.2:p.Arg2343Cys
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4029
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4947
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24455
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg2369Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

2-152330495-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330495
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330495
    reference: chr 2
allele count: 3
allele frequency: 2.499875006249687e-5
allele num: 120006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7035A>G
  hgvsp: ENST00000430328.2:c.7035A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7113A>G
  hgvsp: ENST00000444746.2:c.7113A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1934A>G
  hgvsp: ENST00000454583.2:c.1934A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7035A>G
  hgvsp: ENST00000428287.2:c.7035A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7035A>G
  hgvsp: ENST00000453091.2:c.7035A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7113A>G
  hgvsp: ENST00000243326.5:c.7113A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7867
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4044
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu2371Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-152330505-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330505
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330505
    reference: chr 2
allele count: 3
allele frequency: 2.497668842413747e-5
allele num: 120112
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7045C>G
  hgvsp: ENSP00000416123.2:p.Pro2349Ala
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7045C>G
  hgvsp: ENSP00000414615.2:p.Pro2349Ala
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7123C>G
  hgvsp: ENSP00000390181.2:p.Pro2375Ala
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1944C>G
  hgvsp: ENSP00000404882.2:p.Pro649Ala
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7045C>G
  hgvsp: ENSP00000415691.2:p.Pro2349Ala
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7123C>G
  hgvsp: ENSP00000243326.4:p.Pro2375Ala
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7877
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro2375Ala
num of homozygotes: 1
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-152330509-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330509
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330509
    reference: chr 2
allele count: 9
allele frequency: 7.489390030789715e-5
allele num: 120170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7049T>C
  hgvsp: ENSP00000414615.2:p.Val2350Ala
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1948T>C
  hgvsp: ENSP00000404882.2:p.Val650Ala
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7049T>C
  hgvsp: ENSP00000416123.2:p.Val2350Ala
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7127T>C
  hgvsp: ENSP00000243326.4:p.Val2376Ala
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7127T>C
  hgvsp: ENSP00000390181.2:p.Val2376Ala
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7049T>C
  hgvsp: ENSP00000415691.2:p.Val2350Ala
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9995
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 24584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val2376Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-152330509-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330509
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330509
    reference: chr 2
allele count: 3
allele frequency: 2.496463343596572e-5
allele num: 120170
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7127T>G
  hgvsp: ENSP00000390181.2:p.Val2376Gly
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7049T>G
  hgvsp: ENSP00000415691.2:p.Val2350Gly
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7049T>G
  hgvsp: ENSP00000414615.2:p.Val2350Gly
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7049T>G
  hgvsp: ENSP00000416123.2:p.Val2350Gly
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7127T>G
  hgvsp: ENSP00000243326.4:p.Val2376Gly
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1948T>G
  hgvsp: ENSP00000404882.2:p.Val650Gly
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9995
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val2376Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD

2-152330510-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330510
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330510
    reference: chr 2
allele count: 98
allele frequency: 8.154435014145449e-4
allele num: 120180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7050T>G
  hgvsp: ENST00000430328.2:c.7050T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7128T>G
  hgvsp: ENST00000444746.2:c.7128T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7050T>G
  hgvsp: ENST00000453091.2:c.7050T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7128T>G
  hgvsp: ENST00000243326.5:c.7128T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7050T>G
  hgvsp: ENST00000428287.2:c.7050T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1949T>G
  hgvsp: ENST00000454583.2:c.1949T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 21379
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 9.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7865
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 8.75e1
  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: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10065
  bin: 9.75e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val2376Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

2-152330512-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330512
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330512
    reference: chr 2
allele count: 1
allele frequency: 8.320159747067144e-6
allele num: 120190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7052T>C
  hgvsp: ENSP00000415691.2:p.Phe2351Ser
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7130T>C
  hgvsp: ENSP00000243326.4:p.Phe2377Ser
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1951T>C
  hgvsp: ENSP00000404882.2:p.Phe651Ser
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7052T>C
  hgvsp: ENSP00000414615.2:p.Phe2351Ser
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7130T>C
  hgvsp: ENSP00000390181.2:p.Phe2377Ser
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7052T>C
  hgvsp: ENSP00000416123.2:p.Phe2351Ser
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14888
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4949
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4042
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe2377Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

2-152330514-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330514
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330514
    reference: chr 2
allele count: 1
allele frequency: 8.317253310266817e-6
allele num: 120232
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7132G>A
  hgvsp: ENSP00000243326.4:p.Asp2378Asn
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7054G>A
  hgvsp: ENSP00000415691.2:p.Asp2352Asn
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7054G>A
  hgvsp: ENSP00000416123.2:p.Asp2352Asn
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1953G>A
  hgvsp: ENSP00000404882.2:p.Asp652Asn
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7132G>A
  hgvsp: ENSP00000390181.2:p.Asp2378Asn
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7054G>A
  hgvsp: ENSP00000414615.2:p.Asp2352Asn
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4949
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10058
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7864
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4044
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp2378Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-152330523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330523
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330523
    reference: chr 2
allele count: 1
allele frequency: 8.310893919750009e-6
allele num: 120324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7063G>A
  hgvsp: ENSP00000414615.2:p.Glu2355Lys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7063G>A
  hgvsp: ENSP00000416123.2:p.Glu2355Lys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7141G>A
  hgvsp: ENSP00000243326.4:p.Glu2381Lys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1962G>A
  hgvsp: ENSP00000404882.2:p.Glu655Lys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7141G>A
  hgvsp: ENSP00000390181.2:p.Glu2381Lys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7063G>A
  hgvsp: ENSP00000415691.2:p.Glu2355Lys
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4047
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10058
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu2381Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

2-152330528-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330528
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330528
    reference: chr 2
allele count: 12
allele frequency: 9.967770874173506e-5
allele num: 120388
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7146A>G
  hgvsp: ENST00000243326.5:c.7146A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7068A>G
  hgvsp: ENST00000428287.2:c.7068A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1967A>G
  hgvsp: ENST00000454583.2:c.1967A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7146A>G
  hgvsp: ENST00000444746.2:c.7146A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7068A>G
  hgvsp: ENST00000430328.2:c.7068A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7068A>G
  hgvsp: ENST00000453091.2:c.7068A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21490
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4047
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys2382Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-152330543-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330543
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330543
    reference: chr 2
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7161A>G
  hgvsp: ENSP00000390181.2:p.Ile2387Met
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7161A>G
  hgvsp: ENSP00000243326.4:p.Ile2387Met
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7083A>G
  hgvsp: ENSP00000416123.2:p.Ile2361Met
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7083A>G
  hgvsp: ENSP00000415691.2:p.Ile2361Met
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1982A>G
  hgvsp: ENSP00000404882.2:p.Ile661Met
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7083A>G
  hgvsp: ENSP00000414615.2:p.Ile2361Met
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4050
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile2387Met
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

2-152330544-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330544
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330544
    reference: chr 2
allele count: 2
allele frequency: 1.658484808279156e-5
allele num: 120592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7084G>A
  hgvsp: ENSP00000415691.2:p.Glu2362Lys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7084G>A
  hgvsp: ENSP00000416123.2:p.Glu2362Lys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1983G>A
  hgvsp: ENSP00000404882.2:p.Glu662Lys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7162G>A
  hgvsp: ENSP00000243326.4:p.Glu2388Lys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7084G>A
  hgvsp: ENSP00000414615.2:p.Glu2362Lys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7162G>A
  hgvsp: ENSP00000390181.2:p.Glu2388Lys
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4945
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10069
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24856
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu2388Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-152330546-AAAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330546
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330543
    reference: chr 2
allele count: 4
allele frequency: 3.316639580776757e-5
allele num: 120604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7089_7091delTAA
  hgvsp: ENSP00000416123.2:p.Asn2363del
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7167_7169delTAA
  hgvsp: ENSP00000390181.2:p.Asn2389del
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7167_7169delTAA
  hgvsp: ENSP00000243326.4:p.Asn2389del
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7089_7091delTAA
  hgvsp: ENSP00000415691.2:p.Asn2363del
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.1988_1990delTAA
  hgvsp: ENSP00000404882.2:p.Asn663del
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7089_7091delTAA
  hgvsp: ENSP00000414615.2:p.Asn2363del
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4049
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4946
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10072
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn2389del
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: AAAT
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

2-152330562-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330562
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330562
    reference: chr 2
allele count: 105
allele frequency: 8.698533675751802e-4
allele num: 120710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7102C>T
  hgvsp: ENSP00000415691.2:p.Pro2368Ser
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7102C>T
  hgvsp: ENSP00000414615.2:p.Pro2368Ser
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7180C>T
  hgvsp: ENSP00000390181.2:p.Pro2394Ser
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7102C>T
  hgvsp: ENSP00000416123.2:p.Pro2368Ser
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2001C>T
  hgvsp: ENSP00000404882.2:p.Pro668Ser
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7180C>T
  hgvsp: ENSP00000243326.4:p.Pro2394Ser
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21657
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14902
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4942
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro2394Ser
num of homozygotes: 2
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-152330573-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330573
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330573
    reference: chr 2
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2012A>C
  hgvsp: ENSP00000404882.2:p.Glu671Asp
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7113A>C
  hgvsp: ENSP00000416123.2:p.Glu2371Asp
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7191A>C
  hgvsp: ENSP00000243326.4:p.Glu2397Asp
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7191A>C
  hgvsp: ENSP00000390181.2:p.Glu2397Asp
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7113A>C
  hgvsp: ENSP00000415691.2:p.Glu2371Asp
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7113A>C
  hgvsp: ENSP00000414615.2:p.Glu2371Asp
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10131
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu2397Asp
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

2-152330576-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330576
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330576
    reference: chr 2
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7116A>G
  hgvsp: ENST00000453091.2:c.7116A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7194A>G
  hgvsp: ENST00000444746.2:c.7194A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7116A>G
  hgvsp: ENST00000428287.2:c.7116A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2015A>G
  hgvsp: ENST00000454583.2:c.2015A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7116A>G
  hgvsp: ENST00000430328.2:c.7116A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7194A>G
  hgvsp: ENST00000243326.5:c.7194A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2623
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7873
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg2398Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

2-152330591-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330591
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330591
    reference: chr 2
allele count: 1
allele frequency: 8.290774026663129e-6
allele num: 120616
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7126+5A>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2025+5A>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7204+5A>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7126+5A>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7126+5A>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7204+5A>G
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.75e1
  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: 24600
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4928
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4047
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10128
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
hgvs: c.7204+5A>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

2-152330613-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330613
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330613
    reference: chr 2
allele count: 1
allele frequency: 8.30357884248111e-6
allele num: 120430
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7126+27T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7204+27T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7204+27T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2025+27T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7126+27T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7126+27T>C
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7668
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4022
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-152330617-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330617
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330617
    reference: chr 2
allele count: 1
allele frequency: 8.306061763875276e-6
allele num: 120394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7126+31T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7204+31T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7126+31T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7204+31T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2025+31T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7126+31T>C
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10119
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4879
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4021
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3574
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7643
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/2-152330630-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330630
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330630
    reference: chr 2
allele count: 1
allele frequency: 8.320575118152166e-6
allele num: 120184
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7204+44C>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7126+44C>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7204+44C>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2025+44C>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7126+44C>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7126+44C>A
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4834
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7416
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-152330632-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330632
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330632
    reference: chr 2
allele count: 1
allele frequency: 8.332361224523806e-6
allele num: 120014
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7204+46G>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2025+46G>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7126+46G>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7204+46G>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7126+46G>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7126+46G>C
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21969
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

2-152330634-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152330634
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152330634
    reference: chr 2
allele count: 1
allele frequency: 8.334583520861462e-6
allele num: 119982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2025+48C>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7204+48C>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7126+48C>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7204+48C>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7126+48C>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7126+48C>G
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20667
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10120
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-152331322-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331322
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331322
    reference: chr 2
allele count: 1
allele frequency: 2.874885004599816e-5
allele num: 34784
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7205-49A>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7205-49A>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7127-49A>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7127-49A>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2026-49A>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7127-49A>C
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16926
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11505
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12759
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6286
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD

2-152331337-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331337
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331337
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 37838
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2026-34T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7127-34T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7127-34T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7127-34T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7205-34T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7205-34T>C
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27823
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23720
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10901
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-152331345-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331345
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331345
    reference: chr 2
allele count: 1
allele frequency: 2.452904238618524e-5
allele num: 40768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7127-26A>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7205-26A>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7127-26A>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7205-26A>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2026-26A>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7127-26A>C
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8521
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29927
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

2-152331350-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331350
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331350
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 43256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7205-21G>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2026-21G>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7205-21G>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7127-21G>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7127-21G>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7127-21G>C
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30005
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4930
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28945
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-152331351-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331351
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331351
    reference: chr 2
allele count: 1
allele frequency: 3.805175038051751e-5
allele num: 26280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7127-20G>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7205-20G>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7205-20G>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7127-20G>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7127-20G>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2026-20G>A
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7031
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13046
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21343
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6570
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

2-152331351-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331351
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331352
    reference: chr 2
allele count: 1749
allele frequency: 6.655251141552511e-2
allele num: 26280
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7205-10dupT
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2026-10dupT
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7205-10dupT
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7127-10dupT
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7127-10dupT
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7127-10dupT
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.25e1
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 21101
  bin: 7.5e0
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 7031
  bin: 1.75e1
  variant carriers: 349
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.75e1
  variant carriers: 188
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 2.25e1
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 3.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 2.75e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 13046
  bin: 1.25e1
  variant carriers: 378
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 162
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 121
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.25e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 2.75e1
  variant carriers: 159
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 4.25e1
  variant carriers: 146
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 6.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 5.25e1
  variant carriers: 162
genotype quality: GenotypeQuality
  all individuals: 6570
  bin: 7.5e0
  variant carriers: 170
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 3.75e1
  variant carriers: 184
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 1.25e1
  variant carriers: 171
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 3.25e1
  variant carriers: 184
genotype quality: GenotypeQuality
  all individuals: 15804
  bin: 2.25e1
  variant carriers: 192
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 44
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-152331351-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331351
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331351
    reference: chr 2
allele count: 2
allele frequency: 7.610350076103501e-5
allele num: 26280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2026-20G>T
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7127-20G>T
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7205-20G>T
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7127-20G>T
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7205-20G>T
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7127-20G>T
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13046
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7031
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21101
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6570
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21343
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff

2-152331351-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331351
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331350
    reference: chr 2
allele count: 718
allele frequency: 2.732115677321157e-2
allele num: 26280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7127-10delT
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7205-10delT
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7127-10delT
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7127-10delT
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2026-10delT
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7205-10delT
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7031
  bin: 1.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21101
  bin: 7.5e0
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 2.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 2.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 13046
  bin: 1.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 4.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 1.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 6.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 6.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 3.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 1.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 21343
  bin: 2.5e0
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 6570
  bin: 7.5e0
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 2.75e1
  variant carriers: 33
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: GT
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-152331352-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331352
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331352
    reference: chr 2
allele count: 2
allele frequency: 8.96780557797507e-5
allele num: 22302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7127-19T>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7205-19T>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7205-19T>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2026-19T>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7127-19T>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7127-19T>G
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20819
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12945
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15623
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7037
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

2-152331357-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331357
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331357
    reference: chr 2
allele count: 1
allele frequency: 1.457173665957509e-5
allele num: 68626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7127-14T>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7127-14T>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2026-14T>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7205-14T>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7127-14T>A
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7205-14T>A
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4515
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

2-152331361-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331361
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331361
    reference: chr 2
allele count: 22
allele frequency: 3.145193572368045e-4
allele num: 69948
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7205-10T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7127-10T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2026-10T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7127-10T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7205-10T>C
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7127-10T>C
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 21097
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13087
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5413
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4536
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3598
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

2-152331361-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331361
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331362
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 69948
alternate allele: TC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7205-9dupC
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7127-9dupC
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7205-9dupC
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7127-9dupC
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7127-9dupC
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2026-9dupC
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21097
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3820
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3598
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

2-152331364-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331364
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331364
    reference: chr 2
allele count: 4
allele frequency: 5.4700106665208e-5
allele num: 73126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7205-7C>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7205-7C>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7127-7C>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2026-7C>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7127-7C>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7127-7C>G
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8434
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19852
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4937
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4059
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5388
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
hgvs: c.7205-7C>G
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-152331364-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331364
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331362
    reference: chr 2
allele count: 375
allele frequency: 5.12813499986325e-3
allele num: 73126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7205-4_7205-3delTT
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2026-4_2026-3delTT
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7127-4_7127-3delTT
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7127-4_7127-3delTT
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7127-4_7127-3delTT
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7205-4_7205-3delTT
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 1.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13513
  bin: 1.25e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 19548
  bin: 7.5e0
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 8434
  bin: 2.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3800
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19852
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4937
  bin: 9.75e1
  variant carriers: 397
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 8.25e1
  variant carriers: 2
hgvs: c.7205-4_7205-3delTT
num of homozygotes: 2
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: CTT
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS

2-152331368-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331368
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331368
    reference: chr 2
allele count: 2
allele frequency: 2.546732542148424e-5
allele num: 78532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7205-3T>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2026-3T>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7205-3T>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7127-3T>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7127-3T>G
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7127-3T>G
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3975
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20019
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5302
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 2
hgvs: c.7205-3T>G
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

2-152331374-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331374
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331374
    reference: chr 2
allele count: 1
allele frequency: 1.186352204242395e-5
allele num: 84292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7208T>G
  hgvsp: ENSP00000390181.2:p.Ile2403Arg
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7130T>G
  hgvsp: ENSP00000414615.2:p.Ile2377Arg
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7208T>G
  hgvsp: ENSP00000243326.4:p.Ile2403Arg
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7130T>G
  hgvsp: ENSP00000415691.2:p.Ile2377Arg
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7130T>G
  hgvsp: ENSP00000416123.2:p.Ile2377Arg
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2029T>G
  hgvsp: ENSP00000404882.2:p.Ile677Arg
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9936
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17032
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4600
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17285
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile2403Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

2-152331384-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331384
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331384
    reference: chr 2
allele count: 3
allele frequency: 3.159757330637007e-5
allele num: 94944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7140T>C
  hgvsp: ENST00000428287.2:c.7140T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2039T>C
  hgvsp: ENST00000454583.2:c.2039T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7140T>C
  hgvsp: ENST00000430328.2:c.7140T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7140T>C
  hgvsp: ENST00000453091.2:c.7140T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7218T>C
  hgvsp: ENST00000243326.5:c.7218T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7218T>C
  hgvsp: ENST00000444746.2:c.7218T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3814
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro2406Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

2-152331399-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331399
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331399
    reference: chr 2
allele count: 1
allele frequency: 9.354711968418492e-6
allele num: 106898
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7155T>C
  hgvsp: ENST00000453091.2:c.7155T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7155T>C
  hgvsp: ENST00000430328.2:c.7155T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7233T>C
  hgvsp: ENST00000444746.2:c.7233T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2054T>C
  hgvsp: ENST00000454583.2:c.2054T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7155T>C
  hgvsp: ENST00000428287.2:c.7155T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7233T>C
  hgvsp: ENST00000243326.5:c.7233T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4684
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile2411Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD

2-152331410-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331410
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331410
    reference: chr 2
allele count: 1
allele frequency: 8.896163974094371e-6
allele num: 112408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2065A>G
  hgvsp: ENSP00000404882.2:p.Lys689Arg
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7166A>G
  hgvsp: ENSP00000414615.2:p.Lys2389Arg
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7244A>G
  hgvsp: ENSP00000243326.4:p.Lys2415Arg
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7166A>G
  hgvsp: ENSP00000416123.2:p.Lys2389Arg
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7166A>G
  hgvsp: ENSP00000415691.2:p.Lys2389Arg
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7244A>G
  hgvsp: ENSP00000390181.2:p.Lys2415Arg
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys2415Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

2-152331418-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331418
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331418
    reference: chr 2
allele count: 84862
allele frequency: 7.06994801386297e-1
allele num: 120032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7252C>G
  hgvsp: ENSP00000390181.2:p.Leu2418Val
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7252C>G
  hgvsp: ENSP00000243326.4:p.Leu2418Val
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2073C>G
  hgvsp: ENSP00000404882.2:p.Leu692Val
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7174C>G
  hgvsp: ENSP00000414615.2:p.Leu2392Val
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7174C>G
  hgvsp: ENSP00000415691.2:p.Leu2392Val
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7174C>G
  hgvsp: ENSP00000416123.2:p.Leu2392Val
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 5.25e1
  variant carriers: 2346
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 8.25e1
  variant carriers: 778
genotype depth: GenotypeDepth
  all individuals: 8749
  bin: 2.25e1
  variant carriers: 5396
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 1.75e1
  variant carriers: 2500
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 4.25e1
  variant carriers: 5412
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 1.25e1
  variant carriers: 794
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 8.75e1
  variant carriers: 743
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 3.75e1
  variant carriers: 7388
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.75e1
  variant carriers: 922
genotype depth: GenotypeDepth
  all individuals: 8886
  bin: 3.25e1
  variant carriers: 8441
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 1579
genotype depth: GenotypeDepth
  all individuals: 8723
  bin: 2.75e1
  variant carriers: 7679
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.25e1
  variant carriers: 620
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 9.75e1
  variant carriers: 3664
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 7.75e1
  variant carriers: 795
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.25e1
  variant carriers: 1203
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 7.25e1
  variant carriers: 875
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 4.75e1
  variant carriers: 3562
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 85
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 7.25e1
  variant carriers: 844
genotype quality: GenotypeQuality
  all individuals: 42013
  bin: 9.75e1
  variant carriers: 41750
genotype quality: GenotypeQuality
  all individuals: 5183
  bin: 6.25e1
  variant carriers: 1159
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 8.75e1
  variant carriers: 1016
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.25e1
  variant carriers: 222
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 8.25e1
  variant carriers: 1895
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 6.75e1
  variant carriers: 1406
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.25e1
  variant carriers: 282
hgvs: p.Leu2418Val
num of homozygotes: 30339
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

2-152331419-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331419
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331419
    reference: chr 2
allele count: 7
allele frequency: 5.813663770908426e-5
allele num: 120406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7253T>C
  hgvsp: ENSP00000390181.2:p.Leu2418Pro
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2074T>C
  hgvsp: ENSP00000404882.2:p.Leu692Pro
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7175T>C
  hgvsp: ENSP00000415691.2:p.Leu2392Pro
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7175T>C
  hgvsp: ENSP00000414615.2:p.Leu2392Pro
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7253T>C
  hgvsp: ENSP00000243326.4:p.Leu2418Pro
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7175T>C
  hgvsp: ENSP00000416123.2:p.Leu2392Pro
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26187
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9933
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14846
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu2418Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

2-152331420-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331420
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331420
    reference: chr 2
allele count: 1
allele frequency: 8.305096006909839e-6
allele num: 120408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7176G>A
  hgvsp: ENST00000430328.2:c.7176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7254G>A
  hgvsp: ENST00000444746.2:c.7254G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7176G>A
  hgvsp: ENST00000428287.2:c.7176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7254G>A
  hgvsp: ENST00000243326.5:c.7254G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7176G>A
  hgvsp: ENST00000453091.2:c.7176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2075G>A
  hgvsp: ENST00000454583.2:c.2075G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu2418Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

2-152331422-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331422
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331422
    reference: chr 2
allele count: 1
allele frequency: 8.302613662781043e-6
allele num: 120444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7178C>T
  hgvsp: ENSP00000415691.2:p.Ala2393Val
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7178C>T
  hgvsp: ENSP00000414615.2:p.Ala2393Val
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2077C>T
  hgvsp: ENSP00000404882.2:p.Ala693Val
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7178C>T
  hgvsp: ENSP00000416123.2:p.Ala2393Val
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7256C>T
  hgvsp: ENSP00000390181.2:p.Ala2419Val
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7256C>T
  hgvsp: ENSP00000243326.4:p.Ala2419Val
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2997
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7128
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala2419Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

2-152331436-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331436
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331436
    reference: chr 2
allele count: 1
allele frequency: 8.292561572269675e-6
allele num: 120590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7270C>T
  hgvsp: ENSP00000390181.2:p.Leu2424Phe
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7192C>T
  hgvsp: ENSP00000416123.2:p.Leu2398Phe
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2091C>T
  hgvsp: ENSP00000404882.2:p.Leu698Phe
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7270C>T
  hgvsp: ENSP00000243326.4:p.Leu2424Phe
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7192C>T
  hgvsp: ENSP00000415691.2:p.Leu2398Phe
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7192C>T
  hgvsp: ENSP00000414615.2:p.Leu2398Phe
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26700
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7000
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu2424Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-152331450-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331450
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331450
    reference: chr 2
allele count: 16
allele frequency: 1.326018133297973e-4
allele num: 120662
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7284G>C
  hgvsp: ENST00000243326.5:c.7284G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7284G>C
  hgvsp: ENST00000444746.2:c.7284G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7206G>C
  hgvsp: ENST00000453091.2:c.7206G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2105G>C
  hgvsp: ENST00000454583.2:c.2105G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7206G>C
  hgvsp: ENST00000428287.2:c.7206G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7206G>C
  hgvsp: ENST00000430328.2:c.7206G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27119
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9735
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu2428Leu
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: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

2-152331452-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331452
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331452
    reference: chr 2
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2107A>G
  hgvsp: ENSP00000404882.2:p.Asp703Gly
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7208A>G
  hgvsp: ENSP00000416123.2:p.Asp2403Gly
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7286A>G
  hgvsp: ENSP00000390181.2:p.Asp2429Gly
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7286A>G
  hgvsp: ENSP00000243326.4:p.Asp2429Gly
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7208A>G
  hgvsp: ENSP00000415691.2:p.Asp2403Gly
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7208A>G
  hgvsp: ENSP00000414615.2:p.Asp2403Gly
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp2429Gly
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-152331456-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331456
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331456
    reference: chr 2
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7290A>G
  hgvsp: ENST00000444746.2:c.7290A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7212A>G
  hgvsp: ENST00000430328.2:c.7212A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7290A>G
  hgvsp: ENST00000243326.5:c.7290A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2111A>G
  hgvsp: ENST00000454583.2:c.2111A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7212A>G
  hgvsp: ENST00000453091.2:c.7212A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7212A>G
  hgvsp: ENST00000428287.2:c.7212A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9704
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser2430Ser
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

2-152331460-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331460
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331460
    reference: chr 2
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7216G>T
  hgvsp: ENSP00000414615.2:p.Asp2406Tyr
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7216G>T
  hgvsp: ENSP00000415691.2:p.Asp2406Tyr
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2115G>T
  hgvsp: ENSP00000404882.2:p.Asp706Tyr
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7294G>T
  hgvsp: ENSP00000390181.2:p.Asp2432Tyr
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7294G>T
  hgvsp: ENSP00000243326.4:p.Asp2432Tyr
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7216G>T
  hgvsp: ENSP00000416123.2:p.Asp2406Tyr
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27336
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp2432Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

2-152331462-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331462
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331462
    reference: chr 2
allele count: 2
allele frequency: 1.656012983141788e-5
allele num: 120772
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7296T>G
  hgvsp: ENSP00000243326.4:p.Asp2432Glu
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7296T>G
  hgvsp: ENSP00000390181.2:p.Asp2432Glu
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7218T>G
  hgvsp: ENSP00000416123.2:p.Asp2406Glu
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2117T>G
  hgvsp: ENSP00000404882.2:p.Asp706Glu
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7218T>G
  hgvsp: ENSP00000415691.2:p.Asp2406Glu
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7218T>G
  hgvsp: ENSP00000414615.2:p.Asp2406Glu
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6715
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp2432Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

2-152331465-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331465
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331465
    reference: chr 2
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2120T>C
  hgvsp: ENST00000454583.2:c.2120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7221T>C
  hgvsp: ENST00000430328.2:c.7221T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7299T>C
  hgvsp: ENST00000444746.2:c.7299T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7221T>C
  hgvsp: ENST00000428287.2:c.7221T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7299T>C
  hgvsp: ENST00000243326.5:c.7299T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7221T>C
  hgvsp: ENST00000453091.2:c.7221T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6658
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu2433Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

2-152331467-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331467
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331467
    reference: chr 2
allele count: 1
allele frequency: 8.278693953241936e-6
allele num: 120792
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2122A>G
  hgvsp: ENSP00000404882.2:p.His708Arg
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7223A>G
  hgvsp: ENSP00000414615.2:p.His2408Arg
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7301A>G
  hgvsp: ENSP00000390181.2:p.His2434Arg
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7301A>G
  hgvsp: ENSP00000243326.4:p.His2434Arg
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7223A>G
  hgvsp: ENSP00000416123.2:p.His2408Arg
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7223A>G
  hgvsp: ENSP00000415691.2:p.His2408Arg
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9653
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43491
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His2434Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-152331468-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331468
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331468
    reference: chr 2
allele count: 4
allele frequency: 3.311313101210285e-5
allele num: 120798
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7224T>C
  hgvsp: ENST00000428287.2:c.7224T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7224T>C
  hgvsp: ENST00000453091.2:c.7224T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7224T>C
  hgvsp: ENST00000430328.2:c.7224T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7302T>C
  hgvsp: ENST00000444746.2:c.7302T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2123T>C
  hgvsp: ENST00000454583.2:c.2123T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7302T>C
  hgvsp: ENST00000243326.5:c.7302T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9659
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43659
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His2434His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum

2-152331474-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331474
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331474
    reference: chr 2
allele count: 1
allele frequency: 8.277460475126231e-6
allele num: 120810
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2129T>C
  hgvsp: ENST00000454583.2:c.2129T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7308T>C
  hgvsp: ENST00000444746.2:c.7308T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7230T>C
  hgvsp: ENST00000430328.2:c.7230T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7230T>C
  hgvsp: ENST00000453091.2:c.7230T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7230T>C
  hgvsp: ENST00000428287.2:c.7230T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7308T>C
  hgvsp: ENST00000243326.5:c.7308T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9658
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44047
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr2436Tyr
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

2-152331479-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331479
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331479
    reference: chr 2
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7313G>A
  hgvsp: ENSP00000243326.4:p.Gly2438Glu
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7235G>A
  hgvsp: ENSP00000416123.2:p.Gly2412Glu
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7235G>A
  hgvsp: ENSP00000414615.2:p.Gly2412Glu
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7235G>A
  hgvsp: ENSP00000415691.2:p.Gly2412Glu
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7313G>A
  hgvsp: ENSP00000390181.2:p.Gly2438Glu
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2134G>A
  hgvsp: ENSP00000404882.2:p.Gly712Glu
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6604
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly2438Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

2-152331486-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331486
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331486
    reference: chr 2
allele count: 14
allele frequency: 1.158173395102581e-4
allele num: 120880
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2141A>G
  hgvsp: ENST00000454583.2:c.2141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7242A>G
  hgvsp: ENST00000430328.2:c.7242A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7320A>G
  hgvsp: ENST00000444746.2:c.7320A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7242A>G
  hgvsp: ENST00000428287.2:c.7242A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7242A>G
  hgvsp: ENST00000453091.2:c.7242A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7320A>G
  hgvsp: ENST00000243326.5:c.7320A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9662
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln2440Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/2-152331489-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331489
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331489
    reference: chr 2
allele count: 1
allele frequency: 8.272530236098013e-6
allele num: 120882
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7245A>C
  hgvsp: ENST00000453091.2:c.7245A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7245A>C
  hgvsp: ENST00000430328.2:c.7245A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7323A>C
  hgvsp: ENST00000243326.5:c.7323A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7245A>C
  hgvsp: ENST00000428287.2:c.7245A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7323A>C
  hgvsp: ENST00000444746.2:c.7323A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2144A>C
  hgvsp: ENST00000454583.2:c.2144A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu2441Leu
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: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-152331489-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331489
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331489
    reference: chr 2
allele count: 1
allele frequency: 8.272530236098013e-6
allele num: 120882
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7323A>G
  hgvsp: ENST00000444746.2:c.7323A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2144A>G
  hgvsp: ENST00000454583.2:c.2144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7245A>G
  hgvsp: ENST00000453091.2:c.7245A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7245A>G
  hgvsp: ENST00000428287.2:c.7245A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7323A>G
  hgvsp: ENST00000243326.5:c.7323A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7245A>G
  hgvsp: ENST00000430328.2:c.7245A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu2441Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-152331495-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331495
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331495
    reference: chr 2
allele count: 14
allele frequency: 1.157847726483286e-4
allele num: 120914
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7329A>C
  hgvsp: ENSP00000243326.4:p.Glu2443Asp
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7251A>C
  hgvsp: ENSP00000416123.2:p.Glu2417Asp
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7251A>C
  hgvsp: ENSP00000414615.2:p.Glu2417Asp
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7251A>C
  hgvsp: ENSP00000415691.2:p.Glu2417Asp
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7329A>C
  hgvsp: ENSP00000390181.2:p.Glu2443Asp
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2150A>C
  hgvsp: ENSP00000404882.2:p.Glu717Asp
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9651
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu2443Asp
num of homozygotes: 1
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

2-152331501-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331501
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331501
    reference: chr 2
allele count: 9
allele frequency: 7.442937479325173e-5
allele num: 120920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7257C>T
  hgvsp: ENST00000453091.2:c.7257C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7257C>T
  hgvsp: ENST00000430328.2:c.7257C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7335C>T
  hgvsp: ENST00000444746.2:c.7335C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7257C>T
  hgvsp: ENST00000428287.2:c.7257C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7335C>T
  hgvsp: ENST00000243326.5:c.7335C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2156C>T
  hgvsp: ENST00000454583.2:c.2156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27937
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9654
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6596
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44916
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His2445His
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-152331502-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331502
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331502
    reference: chr 2
allele count: 7
allele frequency: 5.790004797432546e-5
allele num: 120898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7258G>A
  hgvsp: ENSP00000416123.2:p.Glu2420Lys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7258G>A
  hgvsp: ENSP00000414615.2:p.Glu2420Lys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7258G>A
  hgvsp: ENSP00000415691.2:p.Glu2420Lys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7336G>A
  hgvsp: ENSP00000243326.4:p.Glu2446Lys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7336G>A
  hgvsp: ENSP00000390181.2:p.Glu2446Lys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2157G>A
  hgvsp: ENSP00000404882.2:p.Glu720Lys
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27938
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu2446Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-152331512-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331512
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331512
    reference: chr 2
allele count: 1
allele frequency: 8.269383434771103e-6
allele num: 120928
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7346G>A
  hgvsp: ENSP00000243326.4:p.Ser2449Asn
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7346G>A
  hgvsp: ENSP00000390181.2:p.Ser2449Asn
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7268G>A
  hgvsp: ENSP00000414615.2:p.Ser2423Asn
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7268G>A
  hgvsp: ENSP00000415691.2:p.Ser2423Asn
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7268G>A
  hgvsp: ENSP00000416123.2:p.Ser2423Asn
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2167G>A
  hgvsp: ENSP00000404882.2:p.Ser723Asn
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28000
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser2449Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-152331527-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152331527
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152331527
    reference: chr 2
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.7283C>G
  hgvsp: ENSP00000415691.2:p.Ser2428Cys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.7361C>G
  hgvsp: ENSP00000243326.4:p.Ser2454Cys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.7283C>G
  hgvsp: ENSP00000414615.2:p.Ser2428Cys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000404882
  ensembl transcript: ENST00000454583
  gene symbol: RIF1
  hgvsc: ENST00000454583.2:c.2182C>G
  hgvsp: ENSP00000404882.2:p.Ser728Cys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.7361C>G
  hgvsp: ENSP00000390181.2:p.Ser2454Cys
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.7283C>G
  hgvsp: ENSP00000416123.2:p.Ser2428Cys
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser2454Cys
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 2354
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9704
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3540
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7315
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.93814801573114e-5
allele num: 11188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63778
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8094
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.507e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.820974e6

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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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: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566219771958401e-5
allele num: 63848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11184
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e0

DP
type: SiteQuality
SIO_000300: 1.826537e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: 5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564210855623338e-5
allele num: 63930
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9632
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.83e-1

QD
type: SiteQuality
SIO_000300: 6.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 2.099e0

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

DP
type: SiteQuality
SIO_000300: 1.837602e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1691
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.205398696866273e-5
allele num: 64460
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e-1

QD
type: SiteQuality
SIO_000300: 1.567e1

DP
type: SiteQuality
SIO_000300: 1.851039e6

FS
type: SiteQuality
SIO_000300: 2.575e0

GenotypeQuality
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variant carriers: 79

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 103
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.73706362961129e-5
allele num: 64624
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.318205991845417e-4
allele num: 11282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.829714564527934e-4
allele num: 16396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

African
type: Population
allele count: 65
allele frequency: 6.685867105533841e-3
allele num: 9722
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e0

VQSLOD
type: SiteQuality
SIO_000300: 4.02e0

DP
type: SiteQuality
SIO_000300: 1.85679e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

FS
type: SiteQuality
SIO_000300: 1.667e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

QD
type: SiteQuality
SIO_000300: 1.478e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9914
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variant carriers: 1

GenotypeQuality
all individuals: 3900
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64906
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.202790473899447e-4
allele num: 8314
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.17e-1

QD
type: SiteQuality
SIO_000300: 9.73e0

DP
type: SiteQuality
SIO_000300: 1.864263e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.517e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
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)
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allele count: 1
allele frequency: 1.535437906891045e-5
allele num: 65128
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.232e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.185e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.989e1

VQSLOD
type: SiteQuality
SIO_000300: 4.34e0

DP
type: SiteQuality
SIO_000300: 1.869441e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.07e-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
all individuals: 9975
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variant carriers: 79

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 79
allele frequency: 1.211656441717791e-3
allele num: 65200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.136e1

FS
type: SiteQuality
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DP
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SIO_000300: 1.874082e6

ClippingRankSum
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SIO_000300: -2.68e-1

VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

MQ
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SIO_000300: 5.957e1

GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9884
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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: 16422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520542529574552e-5
allele num: 65766
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -8.85e-1

FS
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.882677e6

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.046e1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65930
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.238344683080147e-4
allele num: 11454
num of homozygotes: 0

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

Other
type: Population
allele count: 2
allele frequency: 2.232142857142857e-3
allele num: 896
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African
type: Population
allele count: 2
allele frequency: 2.012882447665056e-4
allele num: 9936
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South Asian
type: Population
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allele frequency: 0.0e0
allele num: 16428
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InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
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ClippingRankSum
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QD
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BaseQRankSum
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.259e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165229550221394e-4
allele num: 8582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9972
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
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: 2
allele frequency: 1.21713729308666e-4
allele num: 16432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66050
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

QD
type: SiteQuality
SIO_000300: 1.545e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.72e0

DP
type: SiteQuality
SIO_000300: 1.889273e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4043
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9987
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3654
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24591
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
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: 3
allele frequency: 1.825039542523421e-4
allele num: 16438
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
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: 8592
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.57e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: -2.262e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

DP
type: SiteQuality
SIO_000300: 1.890715e6

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.45e-1

QD
type: SiteQuality
SIO_000300: 2.807e1

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

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

GenotypeQuality
all individuals: 2634
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3656
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7874
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4958
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4045
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.209482341557813e-4
allele num: 66144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 1.891854e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.55e0

QD
type: SiteQuality
SIO_000300: 1.39e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.87e0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4958
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3656
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7874
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2634
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4045
bin: 8.25e1
variant carriers: 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: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.001801080648389e-4
allele num: 9994
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: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66144
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.891854e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 5.55e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.87e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.39e1

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2624
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24575
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4949
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4042
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.418964683115626e-4
allele num: 66144
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 80
allele frequency: 1.209921355111918e-2
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.2271714922049e-3
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.898186e6

FS
type: SiteQuality
SIO_000300: 6.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.98e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.525e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

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

GenotypeQuality
all individuals: 24591
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10059
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7866
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1967
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3648
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2627
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511670093118878e-5
allele num: 66152
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

VQSLOD
type: SiteQuality
SIO_000300: -1.166e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.009e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

DP
type: SiteQuality
SIO_000300: 1.896145e6

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-1

QD
type: SiteQuality
SIO_000300: 1.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3645
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1968
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2627
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24621
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511076188461422e-5
allele num: 66178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
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

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: 10008
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.896603e6

VQSLOD
type: SiteQuality
SIO_000300: 2.72e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 4.714e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.719e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

QD
type: SiteQuality
SIO_000300: 1.07e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.81e-1

GenotypeQuality
all individuals: 4952
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24689
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2627
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.83e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

FS
type: SiteQuality
SIO_000300: 3.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.63e-1

DP
type: SiteQuality
SIO_000300: 1.897573e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeQuality
all individuals: 1965
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10068
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 4948
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24715
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2627
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7861
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.35795763172189e-4
allele num: 66276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
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: 16458
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: 3
allele frequency: 2.609149417289963e-4
allele num: 11498
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.75e0

FS
type: SiteQuality
SIO_000300: 1.954e0

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

DP
type: SiteQuality
SIO_000300: 1.89872e6

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-2

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.52e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

QD
type: SiteQuality
SIO_000300: 1.373e1

GenotypeQuality
all individuals: 4947
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 24872
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10067
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
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: 11516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505888022166672e-5
allele num: 66406
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.907e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.75e0

DP
type: SiteQuality
SIO_000300: 1.900172e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.262e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.368e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.325e1

GenotypeQuality
all individuals: 421
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4049
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1965
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3651
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 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: 16464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.736714136853074e-4
allele num: 11516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66406
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.900371e6

QD
type: SiteQuality
SIO_000300: 1.326e1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.223e0

FS
type: SiteQuality
SIO_000300: 1.038e0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e-1

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

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1965
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variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.25e1
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GenotypeQuality
all individuals: 2627
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variant carriers: 0

GenotypeQuality
all individuals: 3650
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7878
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.980922098569157e-4
allele num: 10064
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

MQ
type: SiteQuality
SIO_000300: 5.839e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

QD
type: SiteQuality
SIO_000300: 1.665e1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

FS
type: SiteQuality
SIO_000300: 1.768e0

DP
type: SiteQuality
SIO_000300: 1.900555e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.54e-1

GenotypeQuality
all individuals: 7867
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3640
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 10157
bin: 9.75e1
variant carriers: 103

GenotypeQuality
all individuals: 35
bin: 3.25e1
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GenotypeQuality
all individuals: 2622
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1962
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4039
bin: 8.25e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

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

East Asian
type: Population
allele count: 104
allele frequency: 1.204819277108434e-2
allele num: 8632
num of homozygotes: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.43e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.121e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

QD
type: SiteQuality
SIO_000300: 1.121e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 1.910381e6

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 2623
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variant carriers: 0

GenotypeQuality
all individuals: 24852
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variant carriers: 0

GenotypeQuality
all individuals: 4047
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variant carriers: 0

GenotypeQuality
all individuals: 7879
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1964
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66480
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.902611e6

MQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.08e-1

QD
type: SiteQuality
SIO_000300: 1.642e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.255e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24793
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1964
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variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10131
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4048
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4942
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504347564461293e-5
allele num: 66474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.913e0

FS
type: SiteQuality
SIO_000300: 3.858e0

VQSLOD
type: SiteQuality
SIO_000300: -3.057e-1

DP
type: SiteQuality
SIO_000300: 1.90208e6

MQRankSum
type: SiteQuality
SIO_000300: -9.76e-1

QD
type: SiteQuality
SIO_000300: 1.097e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3634
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2623
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.564e1

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.853e0

VQSLOD
type: SiteQuality
SIO_000300: 7.75e-1

FS
type: SiteQuality
SIO_000300: 2.813e0

DP
type: SiteQuality
SIO_000300: 1.898287e6

GenotypeQuality
all individuals: 1954
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4887
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10119
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 23875
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variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66344
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e0

VQSLOD
type: SiteQuality
SIO_000300: -2.906e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 3.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 1.884796e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.268e0

GenotypeQuality
all individuals: 258
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507658907248824e-5
allele num: 66328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.07e-1

QD
type: SiteQuality
SIO_000300: 1.507e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

FS
type: SiteQuality
SIO_000300: 6.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.91e-1

DP
type: SiteQuality
SIO_000300: 1.88168e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 616
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10120
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4001
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1952
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66236
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -6.373e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.353e0

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e0

QD
type: SiteQuality
SIO_000300: 1.649e1

DP
type: SiteQuality
SIO_000300: 1.861054e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.044e0

GenotypeQuality
all individuals: 527
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20792
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4821
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.015434606011373e-4
allele num: 9848
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 1.857345e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.272e-1

FS
type: SiteQuality
SIO_000300: 1.1807e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.25e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.216e1

GenotypeQuality
all individuals: 91
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3494
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7207
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9848
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

QD
type: SiteQuality
SIO_000300: 1.523e1

FS
type: SiteQuality
SIO_000300: 2.082e0

VQSLOD
type: SiteQuality
SIO_000300: 4.64e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: -9.87e-1

DP
type: SiteQuality
SIO_000300: 1.856849e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.64e0

GenotypeQuality
all individuals: 609
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3316
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1067
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 2.645502645502645e-3
allele num: 378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1756
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3300
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.01e0

MQ
type: SiteQuality
SIO_000300: 6.039e1

DP
type: SiteQuality
SIO_000300: 6.21438e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

VQSLOD
type: SiteQuality
SIO_000300: -8.008e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.66e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.584e1

GenotypeQuality
all individuals: 607
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3339
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3215
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2694
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2786
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.80135e5

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.06e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
all individuals: 124
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8520
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28183
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3322
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19110
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.601456815816858e-4
allele num: 3844
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2132
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.193e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.916e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.713e0

DP
type: SiteQuality
SIO_000300: 7.26211e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.55e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.78e-1

GenotypeQuality
all individuals: 473
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3330
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 603
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20490
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

QD
type: SiteQuality
SIO_000300: 2.571e1

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.53e-2

DP
type: SiteQuality
SIO_000300: 7.6268e5

VQSLOD
type: SiteQuality
SIO_000300: -2.171e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
all individuals: 2295
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1980
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.069722401549386e-5
allele num: 12392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.016e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

DP
type: SiteQuality
SIO_000300: 9.79381e5

QD
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
all individuals: 21343
bin: 2.5e0
variant carriers: 94

GenotypeQuality
all individuals: 1971
bin: 1.75e1
variant carriers: 163

GenotypeQuality
all individuals: 890
bin: 9.75e1
variant carriers: 159

GenotypeQuality
all individuals: 414
bin: 5.75e1
variant carriers: 107

GenotypeQuality
all individuals: 216
bin: 8.25e1
variant carriers: 46

GenotypeQuality
all individuals: 253
bin: 7.75e1
variant carriers: 50

GenotypeQuality
all individuals: 685
bin: 4.75e1
variant carriers: 179

GenotypeQuality
all individuals: 2007
bin: 6.25e1
variant carriers: 92

African
type: Population
allele count: 151
allele frequency: 5.866355866355866e-2
allele num: 2574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 26
allele frequency: 1.141352063213345e-2
allele num: 2278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 670
allele frequency: 5.406714009038089e-2
allele num: 12392
num of homozygotes: 0

East Asian
type: Population
allele count: 77
allele frequency: 5.720653789004457e-2
allele num: 1346
num of homozygotes: 0

Latino
type: Population
allele count: 113
allele frequency: 8.248175182481751e-2
allele num: 1370
num of homozygotes: 0

South Asian
type: Population
allele count: 694
allele frequency: 1.15129396151294e-1
allele num: 6028
num of homozygotes: 0

Other
type: Population
allele count: 18
allele frequency: 6.164383561643835e-2
allele num: 292
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.016e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.05e-1

DP
type: SiteQuality
SIO_000300: 9.79381e5

QD
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
all individuals: 1980
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15804
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 216
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.069722401549386e-5
allele num: 12392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1346
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 7.2992700729927e-4
allele num: 1370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.79381e5

QD
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.016e-1

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 18

GenotypeQuality
all individuals: 253
bin: 7.75e1
variant carriers: 14

GenotypeQuality
all individuals: 15804
bin: 2.25e1
variant carriers: 36

GenotypeQuality
all individuals: 277
bin: 7.25e1
variant carriers: 18

GenotypeQuality
all individuals: 890
bin: 9.75e1
variant carriers: 372

GenotypeQuality
all individuals: 565
bin: 5.25e1
variant carriers: 33

GenotypeQuality
all individuals: 1980
bin: 3.25e1
variant carriers: 27

GenotypeQuality
all individuals: 685
bin: 4.75e1
variant carriers: 31

East Asian
type: Population
allele count: 47
allele frequency: 3.491827637444279e-2
allele num: 1346
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 2.054794520547945e-2
allele num: 292
num of homozygotes: 0

South Asian
type: Population
allele count: 23
allele frequency: 3.815527538155276e-3
allele num: 6028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 532
allele frequency: 4.293092317624274e-2
allele num: 12392
num of homozygotes: 0

African
type: Population
allele count: 72
allele frequency: 2.797202797202797e-2
allele num: 2574
num of homozygotes: 0

Latino
type: Population
allele count: 25
allele frequency: 1.824817518248175e-2
allele num: 1370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 13
allele frequency: 5.706760316066725e-3
allele num: 2278
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

QD
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 9.79381e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.016e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.05e-1

GenotypeQuality
all individuals: 22482
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1889
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2346
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 7.911392405063291e-4
allele num: 1264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.16254352208173e-5
allele num: 10914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.23167e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.943e-1

QD
type: SiteQuality
SIO_000300: 6.68e0

GenotypeQuality
all individuals: 3907
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2200
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4224
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20373
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5563
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1522
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.882010490518185e-5
allele num: 34698
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12432
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.93967e5

VQSLOD
type: SiteQuality
SIO_000300: -1.675e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.713e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.136e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

QD
type: SiteQuality
SIO_000300: 7.88e0

FS
type: SiteQuality
SIO_000300: 2.944e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

GenotypeQuality
all individuals: 3820
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4110
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21458
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1139
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 8.25e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 7.974481658692185e-5
allele num: 12540
num of homozygotes: 0

Latino
type: Population
allele count: 21
allele frequency: 3.415744957709824e-3
allele num: 6148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4420
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0811e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

DP
type: SiteQuality
SIO_000300: 1.018299e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 7.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 21458
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6683
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5413
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4536
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

FS
type: SiteQuality
SIO_000300: 1.0811e1

QD
type: SiteQuality
SIO_000300: 7.94e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 1.018299e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

GenotypeQuality
all individuals: 1674
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7539
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3800
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1432
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4670
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 6.080875646093037e-4
allele num: 6578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37262
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.107e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 1.060843e6

FS
type: SiteQuality
SIO_000300: 1.108e0

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.544e1

GenotypeQuality
all individuals: 773
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 486
bin: 9.25e1
variant carriers: 8

GenotypeQuality
all individuals: 4059
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1475
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 7539
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 417
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 623
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5388
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1432
bin: 4.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 23
allele frequency: 4.860524091293322e-3
allele num: 4732
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 6.261740763932373e-4
allele num: 12776
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 1.385467980295567e-3
allele num: 6496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 322
allele frequency: 8.64151145939563e-3
allele num: 37262
num of homozygotes: 2

Other
type: Population
allele count: 1
allele frequency: 1.633986928104575e-3
allele num: 612
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.824262693827911e-3
allele num: 6578
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

QD
type: SiteQuality
SIO_000300: 1.544e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.107e1

DP
type: SiteQuality
SIO_000300: 1.060843e6

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

FS
type: SiteQuality
SIO_000300: 1.108e0

GenotypeQuality
all individuals: 3361
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11565
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.968450340338848e-5
allele num: 40254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5054
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

QD
type: SiteQuality
SIO_000300: 1.345e1

VQSLOD
type: SiteQuality
SIO_000300: 5.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

DP
type: SiteQuality
SIO_000300: 1.104279e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 4.346e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3269
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18167
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2279
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.295894939847553e-5
allele num: 43556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5644
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.187096e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.236e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.608e0

QD
type: SiteQuality
SIO_000300: 1.533e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

GenotypeQuality
all individuals: 500
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 393
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4627
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1384
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 7.25e1
variant carriers: 1

Latino
type: Population
allele count: 3
allele frequency: 3.299604047514298e-4
allele num: 9092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14542
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 1.320538e6

FS
type: SiteQuality
SIO_000300: 3.898e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.196e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

GenotypeQuality
all individuals: 1686
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4747
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1860
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.102292768959436e-4
allele num: 9072
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7550
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.063e1

MQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.111e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 1.453483e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.11e0

GenotypeQuality
all individuals: 147
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5237
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4758
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 338
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1893
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4471
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15830
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.639183031177261e-5
allele num: 61006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9418
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.518633e6

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.57e-1

QD
type: SiteQuality
SIO_000300: 1.518e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.25e-1

FS
type: SiteQuality
SIO_000300: 9.360000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

GenotypeQuality
all individuals: 348
bin: 3.75e1
variant carriers: 316

GenotypeQuality
all individuals: 606
bin: 4.75e1
variant carriers: 545

GenotypeQuality
all individuals: 64
bin: 7.5e0
variant carriers: 43

GenotypeQuality
all individuals: 576
bin: 5.75e1
variant carriers: 538

GenotypeQuality
all individuals: 155
bin: 2.75e1
variant carriers: 124

GenotypeQuality
all individuals: 1796
bin: 7.75e1
variant carriers: 1674

GenotypeQuality
all individuals: 2027
bin: 9.25e1
variant carriers: 1950

GenotypeQuality
all individuals: 331
bin: 2.25e1
variant carriers: 127

GenotypeQuality
all individuals: 864
bin: 5.25e1
variant carriers: 818

African
type: Population
allele count: 6039
allele frequency: 5.992260369120858e-1
allele num: 10078
num of homozygotes: 1800

European (Finnish)
type: Population
allele count: 4760
allele frequency: 7.240644965013691e-1
allele num: 6574
num of homozygotes: 1717

Latino
type: Population
allele count: 9101
allele frequency: 7.966561624649859e-1
allele num: 11424
num of homozygotes: 3623

European (Non-Finnish)
type: Population
allele count: 48264
allele frequency: 7.30365303713568e-1
allele num: 66082
num of homozygotes: 17636

Other
type: Population
allele count: 627
allele frequency: 6.982182628062361e-1
allele num: 898
num of homozygotes: 219

East Asian
type: Population
allele count: 6681
allele frequency: 7.808555399719496e-1
allele num: 8556
num of homozygotes: 2598

South Asian
type: Population
allele count: 9390
allele frequency: 5.71863580998782e-1
allele num: 16420
num of homozygotes: 2746

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.06e-2

FS
type: SiteQuality
SIO_000300: 1.233e0

VQSLOD
type: SiteQuality
SIO_000300: 4.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

QD
type: SiteQuality
SIO_000300: 2.603e1

DP
type: SiteQuality
SIO_000300: 2.583482e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
all individuals: 248
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3041
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2146
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.156606851549756e-4
allele num: 8582
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
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: 10094
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.669505e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

FS
type: SiteQuality
SIO_000300: 5.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

VQSLOD
type: SiteQuality
SIO_000300: 2.43e-1

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

GenotypeQuality
all individuals: 585
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38916
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3023
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507567991316408e-5
allele num: 66332
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.888e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-2

QD
type: SiteQuality
SIO_000300: 1.231e1

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

FS
type: SiteQuality
SIO_000300: 1.048e0

DP
type: SiteQuality
SIO_000300: 1.669514e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.44e-1

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39589
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1788
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507068149621726e-5
allele num: 66354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

QD
type: SiteQuality
SIO_000300: 1.352e1

FS
type: SiteQuality
SIO_000300: 2.943e0

MQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.669778e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.804e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 597
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2960
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41384
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505615947484116e-5
allele num: 66418
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

DP
type: SiteQuality
SIO_000300: 1.676534e6

MQRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

QD
type: SiteQuality
SIO_000300: 2.35e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.769e0

VQSLOD
type: SiteQuality
SIO_000300: -1.704e0

FS
type: SiteQuality
SIO_000300: 3.413e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

GenotypeQuality
all individuals: 233
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6739
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.692628650904033e-5
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.257336343115124e-4
allele num: 66450
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: 16462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 5.41e-1

QD
type: SiteQuality
SIO_000300: 1.351e1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.796e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

DP
type: SiteQuality
SIO_000300: 1.682533e6

GenotypeQuality
all individuals: 423
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2932
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 498
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6758
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504438092372499e-5
allele num: 66470
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.95e-1

DP
type: SiteQuality
SIO_000300: 1.682523e6

VQSLOD
type: SiteQuality
SIO_000300: -1.78e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.76e-1

QD
type: SiteQuality
SIO_000300: 1.599e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.97e-1

GenotypeQuality
all individuals: 369
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2928
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 494
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43033
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.37e-1

DP
type: SiteQuality
SIO_000300: 1.684392e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.949e0

QD
type: SiteQuality
SIO_000300: 8.68e0

VQSLOD
type: SiteQuality
SIO_000300: 9.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e-1

GenotypeQuality
all individuals: 170
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
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GenotypeQuality
all individuals: 2927
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 289
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6714
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504121292341014e-5
allele num: 66484
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: 6590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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: 16462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.866e1

MQRankSum
type: SiteQuality
SIO_000300: -3.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

QD
type: SiteQuality
SIO_000300: 8.369999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.519e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

DP
type: SiteQuality
SIO_000300: 1.685787e6

GenotypeQuality
all individuals: 280
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2927
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 166
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 5.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.958863858961802e-4
allele num: 10210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.686124e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

FS
type: SiteQuality
SIO_000300: 7.488e0

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.129e1

GenotypeQuality
all individuals: 295
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1144
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
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variant carriers: 0

GenotypeQuality
all individuals: 43076
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
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: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e0

QD
type: SiteQuality
SIO_000300: 1.079e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.27e-1

FS
type: SiteQuality
SIO_000300: 1.76e0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.686841e6

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

GenotypeQuality
all individuals: 489
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2923
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1526
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1646
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503895088278642e-5
allele num: 66494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
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: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.094e0

MQRankSum
type: SiteQuality
SIO_000300: 4.02e-1

QD
type: SiteQuality
SIO_000300: 1.469e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.258e0

FS
type: SiteQuality
SIO_000300: 1.6419e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

DP
type: SiteQuality
SIO_000300: 1.68737e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-2

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6667
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1528
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2926
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 488
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.015580353114567e-5
allele num: 66494
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.484e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 4.836e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

DP
type: SiteQuality
SIO_000300: 1.687821e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

GenotypeQuality
all individuals: 207
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 486
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
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GenotypeQuality
all individuals: 1146
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2922
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503623733197005e-5
allele num: 66506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.909e0

MQRankSum
type: SiteQuality
SIO_000300: -4.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.658e1

DP
type: SiteQuality
SIO_000300: 1.689559e6

FS
type: SiteQuality
SIO_000300: 1.2053e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
all individuals: 1508
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2922
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 8.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 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: 10236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503488092374308e-5
allele num: 66512
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 7.62e0

FS
type: SiteQuality
SIO_000300: 1.192e0

MQRankSum
type: SiteQuality
SIO_000300: -7.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.158e0

DP
type: SiteQuality
SIO_000300: 1.691594e6

VQSLOD
type: SiteQuality
SIO_000300: -4.076e-1

GenotypeQuality
all individuals: 750
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44460
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6617
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2930
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 1498
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.803914494452963e-4
allele num: 66522
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.951219512195122e-4
allele num: 10250
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.31e0

MQRankSum
type: SiteQuality
SIO_000300: 3.96e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

DP
type: SiteQuality
SIO_000300: 1.693171e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.439e1

GenotypeQuality
all individuals: 349
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44576
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6614
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 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: 1.503307276007216e-5
allele num: 66520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
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: 10246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

FS
type: SiteQuality
SIO_000300: 1.419e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

MQRankSum
type: SiteQuality
SIO_000300: -8.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.53e-1

DP
type: SiteQuality
SIO_000300: 1.693358e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

QD
type: SiteQuality
SIO_000300: 1.322e1

GenotypeQuality
all individuals: 158
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2920
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 349
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44576
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
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: 16494
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503307276007216e-5
allele num: 66520
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.93e-1

DP
type: SiteQuality
SIO_000300: 1.693358e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

FS
type: SiteQuality
SIO_000300: 1.419e0

VQSLOD
type: SiteQuality
SIO_000300: 6.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

QD
type: SiteQuality
SIO_000300: 1.322e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

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

GenotypeQuality
all individuals: 6595
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1608
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44638
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 14
allele frequency: 1.625638643752903e-3
allele num: 8612
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.694325e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

VQSLOD
type: SiteQuality
SIO_000300: 5.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.34e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

QD
type: SiteQuality
SIO_000300: 1.499e1

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2913
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.321801718133271e-4
allele num: 8614
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.013771536819316e-5
allele num: 66514
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

FS
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

DP
type: SiteQuality
SIO_000300: 1.695464e6

QD
type: SiteQuality
SIO_000300: 1.257e1

GenotypeQuality
all individuals: 44948
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2909
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 6591
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.602811035918792e-4
allele num: 11526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.750390015600624e-5
allele num: 10256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.510735550610453e-5
allele num: 66508
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.695403e6

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

FS
type: SiteQuality
SIO_000300: 1.822e0

QD
type: SiteQuality
SIO_000300: 1.12e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45120
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1481
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2902
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503262078710802e-5
allele num: 66522
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.485e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.616e0

DP
type: SiteQuality
SIO_000300: 1.69577e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.635e0

MQRankSum
type: SiteQuality
SIO_000300: 8.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.278e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 7.84e0