http://identifiers.org/exac.variant/2-152319637-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319637
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319637
    reference: chr 2
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
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.3603A>C
  hgvsp: ENST00000243326.5:c.3603A>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.3603A>C
  hgvsp: ENST00000453091.2:c.3603A>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.3603A>C
  hgvsp: ENST00000430328.2:c.3603A>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.3603A>C
  hgvsp: ENST00000444746.2:c.3603A>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.3603A>C
  hgvsp: ENST00000428287.2:c.3603A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4706
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6296
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3946
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30208
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser1201Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-152319638-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319638
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319638
    reference: chr 2
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.3604G>A
  hgvsp: ENSP00000390181.2:p.Val1202Ile
  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.3604G>A
  hgvsp: ENSP00000416123.2:p.Val1202Ile
  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.3604G>A
  hgvsp: ENSP00000415691.2:p.Val1202Ile
  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.3604G>A
  hgvsp: ENSP00000414615.2:p.Val1202Ile
  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.3604G>A
  hgvsp: ENSP00000243326.4:p.Val1202Ile
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3946
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
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genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9176
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val1202Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/2-152319651-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319651
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319651
    reference: chr 2
allele count: 13
allele frequency: 1.071458007088107e-4
allele num: 121330
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.3617C>A
  hgvsp: ENSP00000416123.2:p.Thr1206Asn
  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.3617C>A
  hgvsp: ENSP00000243326.4:p.Thr1206Asn
  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.3617C>A
  hgvsp: ENSP00000415691.2:p.Thr1206Asn
  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.3617C>A
  hgvsp: ENSP00000390181.2:p.Thr1206Asn
  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.3617C>A
  hgvsp: ENSP00000414615.2:p.Thr1206Asn
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6309
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr1206Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

2-152319660-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319660
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319660
    reference: chr 2
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.3626G>A
  hgvsp: ENSP00000390181.2:p.Gly1209Glu
  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.3626G>A
  hgvsp: ENSP00000416123.2:p.Gly1209Glu
  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.3626G>A
  hgvsp: ENSP00000415691.2:p.Gly1209Glu
  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.3626G>A
  hgvsp: ENSP00000414615.2:p.Gly1209Glu
  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.3626G>A
  hgvsp: ENSP00000243326.4:p.Gly1209Glu
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6308
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30228
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3946
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly1209Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

2-152319666-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319666
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319666
    reference: chr 2
allele count: 4
allele frequency: 3.297717979158422e-5
allele num: 121296
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.3632C>G
  hgvsp: ENSP00000243326.4:p.Pro1211Arg
  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.3632C>G
  hgvsp: ENSP00000415691.2:p.Pro1211Arg
  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.3632C>G
  hgvsp: ENSP00000414615.2:p.Pro1211Arg
  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.3632C>G
  hgvsp: ENSP00000390181.2:p.Pro1211Arg
  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.3632C>G
  hgvsp: ENSP00000416123.2:p.Pro1211Arg
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3944
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro1211Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-152319668-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319668
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319668
    reference: chr 2
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.3634C>G
  hgvsp: ENSP00000415691.2:p.Pro1212Ala
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.3634C>G
  hgvsp: ENSP00000416123.2:p.Pro1212Ala
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.3634C>G
  hgvsp: ENSP00000390181.2:p.Pro1212Ala
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.3634C>G
  hgvsp: ENSP00000414615.2:p.Pro1212Ala
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.3634C>G
  hgvsp: ENSP00000243326.4:p.Pro1212Ala
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3945
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6311
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9165
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro1212Ala
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

2-152319675-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319675
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319675
    reference: chr 2
allele count: 4
allele frequency: 3.299077907724791e-5
allele num: 121246
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.3641C>G
  hgvsp: ENSP00000243326.4:p.Pro1214Arg
  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.3641C>G
  hgvsp: ENSP00000416123.2:p.Pro1214Arg
  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.3641C>G
  hgvsp: ENSP00000414615.2:p.Pro1214Arg
  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.3641C>G
  hgvsp: ENSP00000390181.2:p.Pro1214Arg
  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.3641C>G
  hgvsp: ENSP00000415691.2:p.Pro1214Arg
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6314
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro1214Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-152319677-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319677
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319677
    reference: chr 2
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
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.3643A>G
  hgvsp: ENSP00000415691.2:p.Thr1215Ala
  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.3643A>G
  hgvsp: ENSP00000243326.4:p.Thr1215Ala
  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.3643A>G
  hgvsp: ENSP00000390181.2:p.Thr1215Ala
  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.3643A>G
  hgvsp: ENSP00000416123.2:p.Thr1215Ala
  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.3643A>G
  hgvsp: ENSP00000414615.2:p.Thr1215Ala
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23844
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4701
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6312
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr1215Ala
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

2-152319678-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319678
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319678
    reference: chr 2
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
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.3644C>T
  hgvsp: ENSP00000415691.2:p.Thr1215Ile
  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.3644C>T
  hgvsp: ENSP00000243326.4:p.Thr1215Ile
  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.3644C>T
  hgvsp: ENSP00000414615.2:p.Thr1215Ile
  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.3644C>T
  hgvsp: ENSP00000390181.2:p.Thr1215Ile
  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.3644C>T
  hgvsp: ENSP00000416123.2:p.Thr1215Ile
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4702
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr1215Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-152319683-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319683
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319683
    reference: chr 2
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
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.3649C>T
  hgvsp: ENSP00000415691.2:p.Arg1217Trp
  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.3649C>T
  hgvsp: ENSP00000243326.4:p.Arg1217Trp
  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.3649C>T
  hgvsp: ENSP00000414615.2:p.Arg1217Trp
  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.3649C>T
  hgvsp: ENSP00000416123.2:p.Arg1217Trp
  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.3649C>T
  hgvsp: ENSP00000390181.2:p.Arg1217Trp
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4698
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6313
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg1217Trp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-152319684-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319684
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319684
    reference: chr 2
allele count: 6
allele frequency: 4.950086626515964e-5
allele num: 121210
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.3650G>C
  hgvsp: ENSP00000243326.4:p.Arg1217Pro
  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.3650G>C
  hgvsp: ENSP00000416123.2:p.Arg1217Pro
  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.3650G>C
  hgvsp: ENSP00000415691.2:p.Arg1217Pro
  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.3650G>C
  hgvsp: ENSP00000390181.2:p.Arg1217Pro
  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.3650G>C
  hgvsp: ENSP00000414615.2:p.Arg1217Pro
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6321
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3082
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg1217Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

2-152319684-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319684
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319684
    reference: chr 2
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
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.3650G>A
  hgvsp: ENSP00000415691.2:p.Arg1217Gln
  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.3650G>A
  hgvsp: ENSP00000416123.2:p.Arg1217Gln
  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.3650G>A
  hgvsp: ENSP00000390181.2:p.Arg1217Gln
  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.3650G>A
  hgvsp: ENSP00000414615.2:p.Arg1217Gln
  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.3650G>A
  hgvsp: ENSP00000243326.4:p.Arg1217Gln
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3082
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4701
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3948
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1217Gln
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-152319701-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319701
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319701
    reference: chr 2
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
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.3667A>C
  hgvsp: ENSP00000243326.4:p.Thr1223Pro
  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.3667A>C
  hgvsp: ENSP00000390181.2:p.Thr1223Pro
  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.3667A>C
  hgvsp: ENSP00000415691.2:p.Thr1223Pro
  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.3667A>C
  hgvsp: ENSP00000414615.2:p.Thr1223Pro
  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.3667A>C
  hgvsp: ENSP00000416123.2:p.Thr1223Pro
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3945
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr1223Pro
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

2-152319717-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319717
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319717
    reference: chr 2
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.3683A>G
  hgvsp: ENSP00000414615.2:p.Asp1228Gly
  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.3683A>G
  hgvsp: ENSP00000243326.4:p.Asp1228Gly
  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.3683A>G
  hgvsp: ENSP00000415691.2:p.Asp1228Gly
  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.3683A>G
  hgvsp: ENSP00000390181.2:p.Asp1228Gly
  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.3683A>G
  hgvsp: ENSP00000416123.2:p.Asp1228Gly
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6318
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9139
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp1228Gly
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: A
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ

2-152319729-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319729
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319729
    reference: chr 2
allele count: 2
allele frequency: 1.656150113446283e-5
allele num: 120762
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.3695A>G
  hgvsp: ENSP00000243326.4:p.Asn1232Ser
  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.3695A>G
  hgvsp: ENSP00000416123.2:p.Asn1232Ser
  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.3695A>G
  hgvsp: ENSP00000415691.2:p.Asn1232Ser
  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.3695A>G
  hgvsp: ENSP00000390181.2:p.Asn1232Ser
  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.3695A>G
  hgvsp: ENSP00000414615.2:p.Asn1232Ser
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6318
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3943
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn1232Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

2-152319730-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319730
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319730
    reference: chr 2
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
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.3696T>C
  hgvsp: ENST00000243326.5:c.3696T>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.3696T>C
  hgvsp: ENST00000453091.2:c.3696T>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.3696T>C
  hgvsp: ENST00000430328.2:c.3696T>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.3696T>C
  hgvsp: ENST00000428287.2:c.3696T>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.3696T>C
  hgvsp: ENST00000444746.2:c.3696T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29381
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3943
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn1232Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

http://identifiers.org/exac.variant/2-152319734-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319734
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319734
    reference: chr 2
allele count: 4
allele frequency: 3.315869752636116e-5
allele num: 120632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.3700C>A
  hgvsp: ENSP00000390181.2:p.Pro1234Thr
  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.3700C>A
  hgvsp: ENSP00000416123.2:p.Pro1234Thr
  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.3700C>A
  hgvsp: ENSP00000415691.2:p.Pro1234Thr
  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.3700C>A
  hgvsp: ENSP00000243326.4:p.Pro1234Thr
  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.3700C>A
  hgvsp: ENSP00000414615.2:p.Pro1234Thr
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 4699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 9121
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genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 43
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3943
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro1234Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-152319738-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319738
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319738
    reference: chr 2
allele count: 1
allele frequency: 8.295588406085643e-6
allele num: 120546
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.3704T>C
  hgvsp: ENSP00000415691.2:p.Phe1235Ser
  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.3704T>C
  hgvsp: ENSP00000390181.2:p.Phe1235Ser
  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.3704T>C
  hgvsp: ENSP00000414615.2:p.Phe1235Ser
  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.3704T>C
  hgvsp: ENSP00000243326.4:p.Phe1235Ser
  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.3704T>C
  hgvsp: ENSP00000416123.2:p.Phe1235Ser
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9191
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
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genotype quality: GenotypeQuality
  all individuals: 9107
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 4701
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6320
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe1235Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

2-152319742-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319742
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319742
    reference: chr 2
allele count: 6
allele frequency: 4.986121960543155e-5
allele num: 120334
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.3708T>C
  hgvsp: ENST00000428287.2:c.3708T>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.3708T>C
  hgvsp: ENST00000444746.2:c.3708T>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.3708T>C
  hgvsp: ENST00000430328.2:c.3708T>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.3708T>C
  hgvsp: ENST00000453091.2:c.3708T>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.3708T>C
  hgvsp: ENST00000243326.5:c.3708T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 874
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 87
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser1236Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

2-152319743-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319743
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319743
    reference: chr 2
allele count: 1
allele frequency: 8.310341388824253e-6
allele num: 120332
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.3709C>T
  hgvsp: ENSP00000243326.4:p.Pro1237Ser
  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.3709C>T
  hgvsp: ENSP00000414615.2:p.Pro1237Ser
  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.3709C>T
  hgvsp: ENSP00000415691.2:p.Pro1237Ser
  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.3709C>T
  hgvsp: ENSP00000390181.2:p.Pro1237Ser
  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.3709C>T
  hgvsp: ENSP00000416123.2:p.Pro1237Ser
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4697
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3943
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6322
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro1237Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-152319745-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319745
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319745
    reference: chr 2
allele count: 1
allele frequency: 8.316146630297385e-6
allele num: 120248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.3711A>C
  hgvsp: ENST00000444746.2:c.3711A>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.3711A>C
  hgvsp: ENST00000243326.5:c.3711A>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.3711A>C
  hgvsp: ENST00000430328.2:c.3711A>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.3711A>C
  hgvsp: ENST00000453091.2:c.3711A>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.3711A>C
  hgvsp: ENST00000428287.2:c.3711A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28791
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4695
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro1237Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-152319746-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319746
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319746
    reference: chr 2
allele count: 47
allele frequency: 3.908458902970429e-4
allele num: 120252
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.3712T>C
  hgvsp: ENSP00000243326.4:p.Ser1238Pro
  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.3712T>C
  hgvsp: ENSP00000415691.2:p.Ser1238Pro
  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.3712T>C
  hgvsp: ENSP00000414615.2:p.Ser1238Pro
  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.3712T>C
  hgvsp: ENSP00000390181.2:p.Ser1238Pro
  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.3712T>C
  hgvsp: ENSP00000416123.2:p.Ser1238Pro
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 22883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9167
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3941
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser1238Pro
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-152319747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319747
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319747
    reference: chr 2
allele count: 1
allele frequency: 8.316561600771776e-6
allele num: 120242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.3713C>T
  hgvsp: ENSP00000416123.2:p.Ser1238Phe
  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.3713C>T
  hgvsp: ENSP00000390181.2:p.Ser1238Phe
  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.3713C>T
  hgvsp: ENSP00000243326.4:p.Ser1238Phe
  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.3713C>T
  hgvsp: ENSP00000415691.2:p.Ser1238Phe
  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.3713C>T
  hgvsp: ENSP00000414615.2:p.Ser1238Phe
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22870
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4697
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6334
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser1238Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-152319749-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319749
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319749
    reference: chr 2
allele count: 2
allele frequency: 1.664253499092982e-5
allele num: 120174
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.3715C>G
  hgvsp: ENSP00000416123.2:p.Pro1239Ala
  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.3715C>G
  hgvsp: ENSP00000414615.2:p.Pro1239Ala
  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.3715C>G
  hgvsp: ENSP00000243326.4:p.Pro1239Ala
  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.3715C>G
  hgvsp: ENSP00000415691.2:p.Pro1239Ala
  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.3715C>G
  hgvsp: ENSP00000390181.2:p.Pro1239Ala
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4694
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3944
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro1239Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

2-152319749-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319749
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319749
    reference: chr 2
allele count: 1
allele frequency: 8.32126749546491e-6
allele num: 120174
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.3715C>T
  hgvsp: ENSP00000243326.4:p.Pro1239Ser
  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.3715C>T
  hgvsp: ENSP00000414615.2:p.Pro1239Ser
  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.3715C>T
  hgvsp: ENSP00000416123.2:p.Pro1239Ser
  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.3715C>T
  hgvsp: ENSP00000390181.2:p.Pro1239Ser
  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.3715C>T
  hgvsp: ENSP00000415691.2:p.Pro1239Ser
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6335
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4694
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro1239Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

2-152319750-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319750
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319750
    reference: chr 2
allele count: 2
allele frequency: 1.664475107774763e-5
allele num: 120158
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.3716C>T
  hgvsp: ENSP00000415691.2:p.Pro1239Leu
  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.3716C>T
  hgvsp: ENSP00000414615.2:p.Pro1239Leu
  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.3716C>T
  hgvsp: ENSP00000243326.4:p.Pro1239Leu
  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.3716C>T
  hgvsp: ENSP00000390181.2:p.Pro1239Leu
  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.3716C>T
  hgvsp: ENSP00000416123.2:p.Pro1239Leu
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3944
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4694
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro1239Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-152319753-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319753
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319753
    reference: chr 2
allele count: 18
allele frequency: 1.499725050407425e-4
allele num: 120022
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.3719T>G
  hgvsp: ENSP00000390181.2:p.Leu1240Trp
  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.3719T>G
  hgvsp: ENSP00000243326.4:p.Leu1240Trp
  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.3719T>G
  hgvsp: ENSP00000416123.2:p.Leu1240Trp
  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.3719T>G
  hgvsp: ENSP00000414615.2:p.Leu1240Trp
  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.3719T>G
  hgvsp: ENSP00000415691.2:p.Leu1240Trp
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 18722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9129
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6354
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9055
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3941
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu1240Trp
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

2-152319754-GAAT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319754
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319751
    reference: chr 2
allele count: 1
allele frequency: 8.331944675887353e-6
allele num: 120020
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.3725_3727delATA
  hgvsp: ENSP00000416123.2:p.Asn1242del
  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.3725_3727delATA
  hgvsp: ENSP00000243326.4:p.Asn1242del
  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.3725_3727delATA
  hgvsp: ENSP00000415691.2:p.Asn1242del
  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.3725_3727delATA
  hgvsp: ENSP00000414615.2:p.Asn1242del
  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.3725_3727delATA
  hgvsp: ENSP00000390181.2:p.Asn1242del
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28657
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4692
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn1242del
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: GAAT
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-152319755-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319755
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319755
    reference: chr 2
allele count: 181
allele frequency: 1.508107117265743e-3
allele num: 120018
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.3721A>G
  hgvsp: ENSP00000415691.2:p.Asn1241Asp
  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.3721A>G
  hgvsp: ENSP00000414615.2:p.Asn1241Asp
  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.3721A>G
  hgvsp: ENSP00000243326.4:p.Asn1241Asp
  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.3721A>G
  hgvsp: ENSP00000390181.2:p.Asn1241Asp
  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.3721A>G
  hgvsp: ENSP00000416123.2:p.Asn1241Asp
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 9097
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18671
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22751
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28597
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9030
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn1241Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-152319764-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319764
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319764
    reference: chr 2
allele count: 1
allele frequency: 8.342927700188551e-6
allele num: 119862
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.3730T>C
  hgvsp: ENSP00000390181.2:p.Ser1244Pro
  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.3730T>C
  hgvsp: ENSP00000416123.2:p.Ser1244Pro
  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.3730T>C
  hgvsp: ENSP00000415691.2:p.Ser1244Pro
  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.3730T>C
  hgvsp: ENSP00000414615.2:p.Ser1244Pro
  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.3730T>C
  hgvsp: ENSP00000243326.4:p.Ser1244Pro
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9026
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6457
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3934
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser1244Pro
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-152319765-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319765
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319765
    reference: chr 2
allele count: 63
allele frequency: 5.256570713391739e-4
allele num: 119850
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.3731C>T
  hgvsp: ENSP00000414615.2:p.Ser1244Leu
  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.3731C>T
  hgvsp: ENSP00000416123.2:p.Ser1244Leu
  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.3731C>T
  hgvsp: ENSP00000390181.2:p.Ser1244Leu
  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.3731C>T
  hgvsp: ENSP00000415691.2:p.Ser1244Leu
  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.3731C>T
  hgvsp: ENSP00000243326.4:p.Ser1244Leu
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22633
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 18565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3079
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9007
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28378
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser1244Leu
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-152319777-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319777
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319777
    reference: chr 2
allele count: 5
allele frequency: 4.177388630819103e-5
allele num: 119692
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.3743C>A
  hgvsp: ENSP00000416123.2:p.Thr1248Lys
  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.3743C>A
  hgvsp: ENSP00000414615.2:p.Thr1248Lys
  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.3743C>A
  hgvsp: ENSP00000415691.2:p.Thr1248Lys
  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.3743C>A
  hgvsp: ENSP00000243326.4:p.Thr1248Lys
  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.3743C>A
  hgvsp: ENSP00000390181.2:p.Thr1248Lys
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6476
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4671
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8999
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr1248Lys
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

2-152319777-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319777
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319777
    reference: chr 2
allele count: 5
allele frequency: 4.177388630819103e-5
allele num: 119692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.3743C>T
  hgvsp: ENSP00000416123.2:p.Thr1248Ile
  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.3743C>T
  hgvsp: ENSP00000390181.2:p.Thr1248Ile
  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.3743C>T
  hgvsp: ENSP00000415691.2:p.Thr1248Ile
  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.3743C>T
  hgvsp: ENSP00000414615.2:p.Thr1248Ile
  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.3743C>T
  hgvsp: ENSP00000243326.4:p.Thr1248Ile
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4671
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8999
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr1248Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/2-152319786-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319786
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319786
    reference: chr 2
allele count: 5
allele frequency: 4.180042803638309e-5
allele num: 119616
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.3752A>C
  hgvsp: ENSP00000243326.4:p.Asn1251Thr
  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.3752A>C
  hgvsp: ENSP00000390181.2:p.Asn1251Thr
  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.3752A>C
  hgvsp: ENSP00000414615.2:p.Asn1251Thr
  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.3752A>C
  hgvsp: ENSP00000415691.2:p.Asn1251Thr
  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.3752A>C
  hgvsp: ENSP00000416123.2:p.Asn1251Thr
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3922
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4665
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn1251Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

2-152319787-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319787
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319787
    reference: chr 2
allele count: 1
allele frequency: 8.358408559010364e-6
allele num: 119640
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.3753T>C
  hgvsp: ENST00000453091.2:c.3753T>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.3753T>C
  hgvsp: ENST00000444746.2:c.3753T>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.3753T>C
  hgvsp: ENST00000428287.2:c.3753T>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.3753T>C
  hgvsp: ENST00000243326.5:c.3753T>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.3753T>C
  hgvsp: ENST00000430328.2:c.3753T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6476
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3079
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn1251Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-152319798-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319798
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319798
    reference: chr 2
allele count: 1
allele frequency: 8.367640660039494e-6
allele num: 119508
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.3764C>T
  hgvsp: ENSP00000414615.2:p.Thr1255Ile
  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.3764C>T
  hgvsp: ENSP00000243326.4:p.Thr1255Ile
  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.3764C>T
  hgvsp: ENSP00000390181.2:p.Thr1255Ile
  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.3764C>T
  hgvsp: ENSP00000416123.2:p.Thr1255Ile
  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.3764C>T
  hgvsp: ENSP00000415691.2:p.Thr1255Ile
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3082
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8986
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr1255Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-152319801-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319801
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319801
    reference: chr 2
allele count: 1
allele frequency: 8.368200836820084e-6
allele num: 119500
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.3767T>C
  hgvsp: ENSP00000414615.2:p.Met1256Thr
  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.3767T>C
  hgvsp: ENSP00000243326.4:p.Met1256Thr
  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.3767T>C
  hgvsp: ENSP00000416123.2:p.Met1256Thr
  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.3767T>C
  hgvsp: ENSP00000390181.2:p.Met1256Thr
  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.3767T>C
  hgvsp: ENSP00000415691.2:p.Met1256Thr
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4658
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3933
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met1256Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

2-152319826-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319826
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319826
    reference: chr 2
allele count: 1
allele frequency: 8.366520531441385e-6
allele num: 119524
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.3792A>G
  hgvsp: ENST00000453091.2:c.3792A>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.3792A>G
  hgvsp: ENST00000444746.2:c.3792A>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.3792A>G
  hgvsp: ENST00000243326.5:c.3792A>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.3792A>G
  hgvsp: ENST00000428287.2:c.3792A>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.3792A>G
  hgvsp: ENST00000430328.2:c.3792A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6479
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys1264Lys
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-152319844-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319844
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319844
    reference: chr 2
allele count: 1
allele frequency: 8.350451759440186e-6
allele num: 119754
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.3810G>A
  hgvsp: ENST00000430328.2:c.3810G>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.3810G>A
  hgvsp: ENST00000428287.2:c.3810G>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.3810G>A
  hgvsp: ENST00000444746.2:c.3810G>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.3810G>A
  hgvsp: ENST00000453091.2:c.3810G>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.3810G>A
  hgvsp: ENST00000243326.5:c.3810G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly1270Gly
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

2-152319846-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319846
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319846
    reference: chr 2
allele count: 1
allele frequency: 8.346966712296751e-6
allele num: 119804
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.3812C>G
  hgvsp: ENSP00000415691.2:p.Thr1271Ser
  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.3812C>G
  hgvsp: ENSP00000390181.2:p.Thr1271Ser
  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.3812C>G
  hgvsp: ENSP00000414615.2:p.Thr1271Ser
  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.3812C>G
  hgvsp: ENSP00000243326.4:p.Thr1271Ser
  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.3812C>G
  hgvsp: ENSP00000416123.2:p.Thr1271Ser
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3968
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9069
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr1271Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

2-152319847-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319847
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319847
    reference: chr 2
allele count: 3
allele frequency: 2.50400641025641e-5
allele num: 119808
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.3813T>G
  hgvsp: ENST00000243326.5:c.3813T>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.3813T>G
  hgvsp: ENST00000430328.2:c.3813T>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.3813T>G
  hgvsp: ENST00000444746.2:c.3813T>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.3813T>G
  hgvsp: ENST00000428287.2:c.3813T>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.3813T>G
  hgvsp: ENST00000453091.2:c.3813T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3970
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4694
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28254
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr1271Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

2-152319859-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319859
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319859
    reference: chr 2
allele count: 5
allele frequency: 4.167083375004167e-5
allele num: 119988
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.3825T>C
  hgvsp: ENST00000428287.2:c.3825T>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.3825T>C
  hgvsp: ENST00000430328.2:c.3825T>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.3825T>C
  hgvsp: ENST00000243326.5:c.3825T>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.3825T>C
  hgvsp: ENST00000453091.2:c.3825T>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.3825T>C
  hgvsp: ENST00000444746.2:c.3825T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4695
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3969
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser1275Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

2-152319869-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319869
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319869
    reference: chr 2
allele count: 1
allele frequency: 8.321959988016378e-6
allele num: 120164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.3835A>G
  hgvsp: ENSP00000414615.2:p.Lys1279Glu
  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.3835A>G
  hgvsp: ENSP00000243326.4:p.Lys1279Glu
  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.3835A>G
  hgvsp: ENSP00000416123.2:p.Lys1279Glu
  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.3835A>G
  hgvsp: ENSP00000390181.2:p.Lys1279Glu
  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.3835A>G
  hgvsp: ENSP00000415691.2:p.Lys1279Glu
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4698
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys1279Glu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/2-152319871-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319871
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319871
    reference: chr 2
allele count: 1
allele frequency: 8.318913882603488e-6
allele num: 120208
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.3837A>C
  hgvsp: ENSP00000243326.4:p.Lys1279Asn
  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.3837A>C
  hgvsp: ENSP00000416123.2:p.Lys1279Asn
  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.3837A>C
  hgvsp: ENSP00000415691.2:p.Lys1279Asn
  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.3837A>C
  hgvsp: ENSP00000390181.2:p.Lys1279Asn
  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.3837A>C
  hgvsp: ENSP00000414615.2:p.Lys1279Asn
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28749
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6489
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys1279Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-152319883-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319883
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319883
    reference: chr 2
allele count: 1
allele frequency: 8.290636555074699e-6
allele num: 120618
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.3849A>C
  hgvsp: ENST00000444746.2:c.3849A>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.3849A>C
  hgvsp: ENST00000243326.5:c.3849A>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.3849A>C
  hgvsp: ENST00000453091.2:c.3849A>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.3849A>C
  hgvsp: ENST00000430328.2:c.3849A>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.3849A>C
  hgvsp: ENST00000428287.2:c.3849A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4723
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9159
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29106
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly1283Gly
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-152319885-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319885
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319885
    reference: chr 2
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
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.3851C>G
  hgvsp: ENSP00000416123.2:p.Thr1284Ser
  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.3851C>G
  hgvsp: ENSP00000415691.2:p.Thr1284Ser
  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.3851C>G
  hgvsp: ENSP00000414615.2:p.Thr1284Ser
  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.3851C>G
  hgvsp: ENSP00000390181.2:p.Thr1284Ser
  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.3851C>G
  hgvsp: ENSP00000243326.4:p.Thr1284Ser
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3991
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr1284Ser
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-152319887-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319887
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319885
    reference: chr 2
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000243326
  ensembl transcript: ENST00000243326
  gene symbol: RIF1
  hgvsc: ENST00000243326.5:c.3857_3858delGA
  hgvsp: ENSP00000243326.4:p.Arg1286IlefsTer7
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.3857_3858delGA
  hgvsp: ENSP00000390181.2:p.Arg1286IlefsTer7
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.3857_3858delGA
  hgvsp: ENSP00000414615.2:p.Arg1286IlefsTer7
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000415691
  ensembl transcript: ENST00000428287
  gene symbol: RIF1
  hgvsc: ENST00000428287.2:c.3857_3858delGA
  hgvsp: ENSP00000415691.2:p.Arg1286IlefsTer7
  variant of: http://identifiers.org/hgnc/23207
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000416123
  ensembl transcript: ENST00000430328
  gene symbol: RIF1
  hgvsc: ENST00000430328.2:c.3857_3858delGA
  hgvsp: ENSP00000416123.2:p.Arg1286IlefsTer7
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4726
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6493
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3995
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3124
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1286IlefsTer7
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: AAG
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

2-152319899-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319899
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319899
    reference: chr 2
allele count: 1
allele frequency: 8.27034090345204e-6
allele num: 120914
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.3865C>G
  hgvsp: ENSP00000390181.2:p.Arg1289Gly
  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.3865C>G
  hgvsp: ENSP00000416123.2:p.Arg1289Gly
  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.3865C>G
  hgvsp: ENSP00000414615.2:p.Arg1289Gly
  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.3865C>G
  hgvsp: ENSP00000415691.2:p.Arg1289Gly
  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.3865C>G
  hgvsp: ENSP00000243326.4:p.Arg1289Gly
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6503
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29345
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4740
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg1289Gly
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

2-152319899-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319899
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319899
    reference: chr 2
allele count: 8
allele frequency: 6.616272722761632e-5
allele num: 120914
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.3865C>T
  hgvsp: ENSP00000390181.2:p.Arg1289Trp
  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.3865C>T
  hgvsp: ENSP00000414615.2:p.Arg1289Trp
  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.3865C>T
  hgvsp: ENSP00000416123.2:p.Arg1289Trp
  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.3865C>T
  hgvsp: ENSP00000243326.4:p.Arg1289Trp
  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.3865C>T
  hgvsp: ENSP00000415691.2:p.Arg1289Trp
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4740
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3999
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg1289Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

2-152319900-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319900
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319900
    reference: chr 2
allele count: 3
allele frequency: 2.480445818795165e-5
allele num: 120946
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.3866G>A
  hgvsp: ENSP00000416123.2:p.Arg1289Gln
  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.3866G>A
  hgvsp: ENSP00000243326.4:p.Arg1289Gln
  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.3866G>A
  hgvsp: ENSP00000414615.2:p.Arg1289Gln
  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.3866G>A
  hgvsp: ENSP00000415691.2:p.Arg1289Gln
  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.3866G>A
  hgvsp: ENSP00000390181.2:p.Arg1289Gln
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4738
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6504
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg1289Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-152319901-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319901
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319901
    reference: chr 2
allele count: 1
allele frequency: 8.266922390132602e-6
allele num: 120964
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.3867G>C
  hgvsp: ENST00000243326.5:c.3867G>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.3867G>C
  hgvsp: ENST00000453091.2:c.3867G>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.3867G>C
  hgvsp: ENST00000428287.2:c.3867G>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.3867G>C
  hgvsp: ENST00000430328.2:c.3867G>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.3867G>C
  hgvsp: ENST00000444746.2:c.3867G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4004
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4736
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg1289Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

2-152319906-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319906
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319906
    reference: chr 2
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
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.3872C>G
  hgvsp: ENSP00000390181.2:p.Ala1291Gly
  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.3872C>G
  hgvsp: ENSP00000243326.4:p.Ala1291Gly
  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.3872C>G
  hgvsp: ENSP00000416123.2:p.Ala1291Gly
  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.3872C>G
  hgvsp: ENSP00000414615.2:p.Ala1291Gly
  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.3872C>G
  hgvsp: ENSP00000415691.2:p.Ala1291Gly
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala1291Gly
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

2-152319906-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319906
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319906
    reference: chr 2
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
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.3872C>T
  hgvsp: ENSP00000415691.2:p.Ala1291Val
  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.3872C>T
  hgvsp: ENSP00000416123.2:p.Ala1291Val
  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.3872C>T
  hgvsp: ENSP00000243326.4:p.Ala1291Val
  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.3872C>T
  hgvsp: ENSP00000390181.2:p.Ala1291Val
  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.3872C>T
  hgvsp: ENSP00000414615.2:p.Ala1291Val
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6505
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4003
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala1291Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

2-152319917-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319917
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319917
    reference: chr 2
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
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.3883G>C
  hgvsp: ENSP00000414615.2:p.Glu1295Gln
  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.3883G>C
  hgvsp: ENSP00000390181.2:p.Glu1295Gln
  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.3883G>C
  hgvsp: ENSP00000415691.2:p.Glu1295Gln
  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.3883G>C
  hgvsp: ENSP00000416123.2:p.Glu1295Gln
  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.3883G>C
  hgvsp: ENSP00000243326.4:p.Glu1295Gln
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9237
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu1295Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

2-152319921-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319921
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319921
    reference: chr 2
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.3887A>G
  hgvsp: ENSP00000414615.2:p.Gln1296Arg
  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.3887A>G
  hgvsp: ENSP00000390181.2:p.Gln1296Arg
  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.3887A>G
  hgvsp: ENSP00000243326.4:p.Gln1296Arg
  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.3887A>G
  hgvsp: ENSP00000416123.2:p.Gln1296Arg
  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.3887A>G
  hgvsp: ENSP00000415691.2:p.Gln1296Arg
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19066
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln1296Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-152319932-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319932
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319932
    reference: chr 2
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
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.3898A>G
  hgvsp: ENSP00000243326.4:p.Lys1300Glu
  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.3898A>G
  hgvsp: ENSP00000416123.2:p.Lys1300Glu
  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.3898A>G
  hgvsp: ENSP00000415691.2:p.Lys1300Glu
  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.3898A>G
  hgvsp: ENSP00000390181.2:p.Lys1300Glu
  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.3898A>G
  hgvsp: ENSP00000414615.2:p.Lys1300Glu
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9257
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29365
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys1300Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

2-152319933-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319933
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319933
    reference: chr 2
allele count: 12
allele frequency: 9.90115348438093e-5
allele num: 121198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000414615
  ensembl transcript: ENST00000453091
  gene symbol: RIF1
  hgvsc: ENST00000453091.2:c.3899A>G
  hgvsp: ENSP00000414615.2:p.Lys1300Arg
  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.3899A>G
  hgvsp: ENSP00000390181.2:p.Lys1300Arg
  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.3899A>G
  hgvsp: ENSP00000416123.2:p.Lys1300Arg
  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.3899A>G
  hgvsp: ENSP00000243326.4:p.Lys1300Arg
  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.3899A>G
  hgvsp: ENSP00000415691.2:p.Lys1300Arg
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6517
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4744
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4014
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29404
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys1300Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

2-152319943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319943
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319943
    reference: chr 2
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.3909G>A
  hgvsp: ENST00000444746.2:c.3909G>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.3909G>A
  hgvsp: ENST00000428287.2:c.3909G>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.3909G>A
  hgvsp: ENST00000243326.5:c.3909G>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.3909G>A
  hgvsp: ENST00000453091.2:c.3909G>A(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.3909G>A
  hgvsp: ENST00000430328.2:c.3909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19014
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6589
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys1303Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-152319943-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319943
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319943
    reference: chr 2
allele count: 73
allele frequency: 6.023897544230262e-4
allele num: 121184
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.3909G>C
  hgvsp: ENSP00000390181.2:p.Lys1303Asn
  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.3909G>C
  hgvsp: ENSP00000415691.2:p.Lys1303Asn
  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.3909G>C
  hgvsp: ENSP00000243326.4:p.Lys1303Asn
  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.3909G>C
  hgvsp: ENSP00000414615.2:p.Lys1303Asn
  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.3909G>C
  hgvsp: ENSP00000416123.2:p.Lys1303Asn
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9295
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19014
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 23342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6589
  bin: 9.75e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 4743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys1303Asn
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

2-152319943-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319943
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319943
    reference: chr 2
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
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.3909G>T
  hgvsp: ENSP00000243326.4:p.Lys1303Asn
  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.3909G>T
  hgvsp: ENSP00000390181.2:p.Lys1303Asn
  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.3909G>T
  hgvsp: ENSP00000416123.2:p.Lys1303Asn
  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.3909G>T
  hgvsp: ENSP00000415691.2:p.Lys1303Asn
  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.3909G>T
  hgvsp: ENSP00000414615.2:p.Lys1303Asn
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9258
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29279
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys1303Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-152319944-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319944
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319944
    reference: chr 2
allele count: 6
allele frequency: 4.950985246063966e-5
allele num: 121188
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.3910C>T
  hgvsp: ENSP00000243326.4:p.Pro1304Ser
  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.3910C>T
  hgvsp: ENSP00000390181.2:p.Pro1304Ser
  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.3910C>T
  hgvsp: ENSP00000414615.2:p.Pro1304Ser
  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.3910C>T
  hgvsp: ENSP00000416123.2:p.Pro1304Ser
  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.3910C>T
  hgvsp: ENSP00000415691.2:p.Pro1304Ser
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9314
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4008
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6580
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4747
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro1304Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

2-152319946-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319946
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319946
    reference: chr 2
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.3912C>T
  hgvsp: ENST00000444746.2:c.3912C>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.3912C>T
  hgvsp: ENST00000430328.2:c.3912C>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.3912C>T
  hgvsp: ENST00000428287.2:c.3912C>T(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.3912C>T
  hgvsp: ENST00000453091.2:c.3912C>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.3912C>T
  hgvsp: ENST00000243326.5:c.3912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4009
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro1304Pro
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-152319957-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319957
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319957
    reference: chr 2
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
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.3923C>A
  hgvsp: ENSP00000415691.2:p.Ser1308Tyr
  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.3923C>A
  hgvsp: ENSP00000414615.2:p.Ser1308Tyr
  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.3923C>A
  hgvsp: ENSP00000390181.2:p.Ser1308Tyr
  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.3923C>A
  hgvsp: ENSP00000416123.2:p.Ser1308Tyr
  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.3923C>A
  hgvsp: ENSP00000243326.4:p.Ser1308Tyr
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9345
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6584
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4021
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser1308Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

2-152319963-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319963
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319963
    reference: chr 2
allele count: 2
allele frequency: 1.649865535958819e-5
allele num: 121222
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.3929C>T
  hgvsp: ENSP00000390181.2:p.Pro1310Leu
  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.3929C>T
  hgvsp: ENSP00000414615.2:p.Pro1310Leu
  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.3929C>T
  hgvsp: ENSP00000415691.2:p.Pro1310Leu
  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.3929C>T
  hgvsp: ENSP00000243326.4:p.Pro1310Leu
  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.3929C>T
  hgvsp: ENSP00000416123.2:p.Pro1310Leu
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19061
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6594
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro1310Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

2-152319964-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319964
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319964
    reference: chr 2
allele count: 56
allele frequency: 4.618937644341801e-4
allele num: 121240
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.3930G>A
  hgvsp: ENST00000430328.2:c.3930G>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.3930G>A
  hgvsp: ENST00000453091.2:c.3930G>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.3930G>A
  hgvsp: ENST00000243326.5:c.3930G>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.3930G>A
  hgvsp: ENST00000428287.2:c.3930G>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.3930G>A
  hgvsp: ENST00000444746.2:c.3930G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19046
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23191
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4776
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6637
  bin: 9.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro1310Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-152319965-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319965
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319965
    reference: chr 2
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
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.3931G>A
  hgvsp: ENSP00000416123.2:p.Glu1311Lys
  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.3931G>A
  hgvsp: ENSP00000415691.2:p.Glu1311Lys
  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.3931G>A
  hgvsp: ENSP00000414615.2:p.Glu1311Lys
  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.3931G>A
  hgvsp: ENSP00000390181.2:p.Glu1311Lys
  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.3931G>A
  hgvsp: ENSP00000243326.4:p.Glu1311Lys
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4784
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6616
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu1311Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

2-152319968-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319968
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319968
    reference: chr 2
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
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.3934A>G
  hgvsp: ENSP00000416123.2:p.Lys1312Glu
  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.3934A>G
  hgvsp: ENSP00000390181.2:p.Lys1312Glu
  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.3934A>G
  hgvsp: ENSP00000414615.2:p.Lys1312Glu
  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.3934A>G
  hgvsp: ENSP00000415691.2:p.Lys1312Glu
  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.3934A>G
  hgvsp: ENSP00000243326.4:p.Lys1312Glu
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19065
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9302
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6617
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys1312Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

2-152319977-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319977
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319977
    reference: chr 2
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.3943G>A
  hgvsp: ENSP00000390181.2:p.Glu1315Lys
  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.3943G>A
  hgvsp: ENSP00000416123.2:p.Glu1315Lys
  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.3943G>A
  hgvsp: ENSP00000414615.2:p.Glu1315Lys
  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.3943G>A
  hgvsp: ENSP00000415691.2:p.Glu1315Lys
  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.3943G>A
  hgvsp: ENSP00000243326.4:p.Glu1315Lys
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6620
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4805
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu1315Lys
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-152319993-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152319993
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152319993
    reference: chr 2
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
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.3959G>C
  hgvsp: ENSP00000390181.2:p.Gly1320Ala
  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.3959G>C
  hgvsp: ENSP00000416123.2:p.Gly1320Ala
  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.3959G>C
  hgvsp: ENSP00000243326.4:p.Gly1320Ala
  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.3959G>C
  hgvsp: ENSP00000415691.2:p.Gly1320Ala
  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.3959G>C
  hgvsp: ENSP00000414615.2:p.Gly1320Ala
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9334
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4813
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3167
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly1320Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-152320001-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152320001
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152320001
    reference: chr 2
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080345
  ensembl protein: ENSP00000390181
  ensembl transcript: ENST00000444746
  gene symbol: RIF1
  hgvsc: ENST00000444746.2:c.3967G>A
  hgvsp: ENSP00000390181.2:p.Val1323Ile
  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.3967G>A
  hgvsp: ENSP00000414615.2:p.Val1323Ile
  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.3967G>A
  hgvsp: ENSP00000415691.2:p.Val1323Ile
  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.3967G>A
  hgvsp: ENSP00000416123.2:p.Val1323Ile
  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.3967G>A
  hgvsp: ENSP00000243326.4:p.Val1323Ile
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4082
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4828
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val1323Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-152320016-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152320016
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152320016
    reference: chr 2
allele count: 6
allele frequency: 4.951230380749617e-5
allele num: 121182
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.3982C>T
  hgvsp: ENSP00000415691.2:p.Pro1328Ser
  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.3982C>T
  hgvsp: ENSP00000243326.4:p.Pro1328Ser
  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.3982C>T
  hgvsp: ENSP00000390181.2:p.Pro1328Ser
  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.3982C>T
  hgvsp: ENSP00000414615.2:p.Pro1328Ser
  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.3982C>T
  hgvsp: ENSP00000416123.2:p.Pro1328Ser
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22997
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29038
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro1328Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-152320021-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152320021
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152320021
    reference: chr 2
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
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.3987T>C
  hgvsp: ENST00000428287.2:c.3987T>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.3987T>C
  hgvsp: ENST00000243326.5:c.3987T>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.3987T>C
  hgvsp: ENST00000430328.2:c.3987T>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.3987T>C
  hgvsp: ENST00000444746.2:c.3987T>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.3987T>C
  hgvsp: ENST00000453091.2:c.3987T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4841
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9350
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro1329Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-152320023-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152320023
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152320023
    reference: chr 2
allele count: 2
allele frequency: 1.650355651642929e-5
allele num: 121186
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.3989G>C
  hgvsp: ENSP00000415691.2:p.Gly1330Ala
  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.3989G>C
  hgvsp: ENSP00000390181.2:p.Gly1330Ala
  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.3989G>C
  hgvsp: ENSP00000243326.4:p.Gly1330Ala
  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.3989G>C
  hgvsp: ENSP00000416123.2:p.Gly1330Ala
  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.3989G>C
  hgvsp: ENSP00000414615.2:p.Gly1330Ala
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29018
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4093
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4844
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly1330Ala
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

2-152320024-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152320024
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 152320024
    reference: chr 2
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
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.3990T>C
  hgvsp: ENST00000243326.5:c.3990T>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.3990T>C
  hgvsp: ENST00000453091.2:c.3990T>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.3990T>C
  hgvsp: ENST00000428287.2:c.3990T>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.3990T>C
  hgvsp: ENST00000444746.2:c.3990T>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.3990T>C
  hgvsp: ENST00000430328.2:c.3990T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23207
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly1330Gly
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1595
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3088
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 1.574e1

VQSLOD
type: SiteQuality
SIO_000300: -1.237e0

DP
type: SiteQuality
SIO_000300: 1.71798e6

FS
type: SiteQuality
SIO_000300: 5.892e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.178e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-2

GenotypeQuality
all individuals: 6297
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4705
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 10370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.564e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.54e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

DP
type: SiteQuality
SIO_000300: 1.718102e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

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

GenotypeQuality
all individuals: 1452
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4703
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3948
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.494903465643362e-5
allele num: 66712
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.930874686232864e-4
allele num: 10358
num of homozygotes: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.183137525915688e-4
allele num: 11576
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.342e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.96e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 5.18e-1

DP
type: SiteQuality
SIO_000300: 1.719069e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.911e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

GenotypeQuality
all individuals: 4700
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9167
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1595
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.545e1

DP
type: SiteQuality
SIO_000300: 1.718523e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.837e1

QD
type: SiteQuality
SIO_000300: 1.245e1

VQSLOD
type: SiteQuality
SIO_000300: -1.999e0

MQRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.006e0

GenotypeQuality
all individuals: 9166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4699
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6312
bin: 9.75e1
variant carriers: 4

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.42306760358614e-4
allele num: 16508
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.237e0

QD
type: SiteQuality
SIO_000300: 1.029e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

FS
type: SiteQuality
SIO_000300: 1.6158e1

DP
type: SiteQuality
SIO_000300: 1.718429e6

MQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

GenotypeQuality
all individuals: 30182
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1595
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3085
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4699
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.718174e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 1.807e0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.68e-1

GenotypeQuality
all individuals: 4700
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9165
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3948
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1594
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.42306760358614e-4
allele num: 16508
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.717972e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.935e0

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.099e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeQuality
all individuals: 152
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3083
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3949
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1594
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.72951936174353e-5
allele num: 10278
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

FS
type: SiteQuality
SIO_000300: 5.967e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

DP
type: SiteQuality
SIO_000300: 1.71763e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.249e1

GenotypeQuality
all individuals: 156
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3947
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6313
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.195e1

FS
type: SiteQuality
SIO_000300: 9.680999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 9.58e-1

DP
type: SiteQuality
SIO_000300: 1.717519e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: -4.405e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.674e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30097
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3083
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3947
bin: 7.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -6.331e-1

FS
type: SiteQuality
SIO_000300: 4.449e0

DP
type: SiteQuality
SIO_000300: 1.717259e6

MQ
type: SiteQuality
SIO_000300: 5.905e1

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

GenotypeQuality
all individuals: 4701
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

South Asian
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allele count: 6
allele frequency: 3.63460140537921e-4
allele num: 16508
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

QD
type: SiteQuality
SIO_000300: 1.105e1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 3
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

DP
type: SiteQuality
SIO_000300: 1.717665e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

QD
type: SiteQuality
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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: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.354e1

DP
type: SiteQuality
SIO_000300: 1.715615e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.315e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

FS
type: SiteQuality
SIO_000300: 1.885e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-3

VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66512
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.858044164037855e-5
allele num: 10144
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.253e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

FS
type: SiteQuality
SIO_000300: 2.72e0

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

DP
type: SiteQuality
SIO_000300: 1.712527e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011413256241154e-5
allele num: 66414
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e0

QD
type: SiteQuality
SIO_000300: 1.573e1

DP
type: SiteQuality
SIO_000300: 1.709496e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.136e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.047e0

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

FS
type: SiteQuality
SIO_000300: 5.128e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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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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bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66386
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.263e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.709043e6

MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.011e-1

MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 4
allele frequency: 3.972983710766786e-4
allele num: 10068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66322
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

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

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

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

South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509069507741527e-5
allele num: 66266
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10044
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 7

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

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

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

African
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allele frequency: 6.014434643143544e-4
allele num: 9976
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66124
num of homozygotes: 0

QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
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allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 9976
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66122
num of homozygotes: 0

South Asian
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
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MQRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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num of homozygotes: 0

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

African
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Other
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.513408801985592e-5
allele num: 66076
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.7018e6

QD
type: SiteQuality
SIO_000300: 1.188e1

FS
type: SiteQuality
SIO_000300: 8.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.21e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 7.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

GenotypeQuality
all individuals: 1454
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28776
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6370
bin: 9.75e1
variant carriers: 47

GenotypeQuality
all individuals: 3084
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9064
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.458412588621823e-4
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 43
allele frequency: 2.605113292136193e-3
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66074
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.704113e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

QD
type: SiteQuality
SIO_000300: 1.396e1

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

GenotypeQuality
all individuals: 3945
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9076
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28788
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1594
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513500423780119e-5
allele num: 66072
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

DP
type: SiteQuality
SIO_000300: 1.702112e6

VQSLOD
type: SiteQuality
SIO_000300: -3.589e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.736e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

GenotypeQuality
all individuals: 102
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28722
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9063
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6335
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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: 2
allele frequency: 3.029017992366875e-5
allele num: 66028
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.209e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.086e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.839e0

FS
type: SiteQuality
SIO_000300: 1.1532e1

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 1.701181e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.66e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.862e0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9063
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3944
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.007252215954875e-4
allele num: 9928
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.086e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.862e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.66e-1

FS
type: SiteQuality
SIO_000300: 1.1532e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 1.209e1

DP
type: SiteQuality
SIO_000300: 1.701181e6

VQSLOD
type: SiteQuality
SIO_000300: -1.839e0

GenotypeQuality
all individuals: 192
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6335
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1457
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3083
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66020
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.016129032258065e-4
allele num: 9920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.858e0

QD
type: SiteQuality
SIO_000300: 1.198e1

DP
type: SiteQuality
SIO_000300: 1.70079e6

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 3.005e0

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
all individuals: 96
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3083
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4692
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28608
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.323763403666552e-4
allele num: 11564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.82000182000182e-4
allele num: 65934
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.535e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

DP
type: SiteQuality
SIO_000300: 1.700619e6

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

GenotypeQuality
all individuals: 9053
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6347
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1592
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 920
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1456
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516806212838248e-5
allele num: 65928
num of homozygotes: 0

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

FS
type: SiteQuality
SIO_000300: 4.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.273e0

MQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

DP
type: SiteQuality
SIO_000300: 1.700172e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-1

QD
type: SiteQuality
SIO_000300: 1.691e1

MQ
type: SiteQuality
SIO_000300: 4.526e1

GenotypeQuality
all individuals: 1582
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4679
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6507
bin: 9.75e1
variant carriers: 181

GenotypeQuality
all individuals: 1451
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 174
allele frequency: 2.639322877165306e-3
allele num: 65926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.53857791225416e-4
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729505361466621e-4
allele num: 11564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.212389380530973e-3
allele num: 904
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

QD
type: SiteQuality
SIO_000300: 1.526e1

DP
type: SiteQuality
SIO_000300: 1.711772e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.71e-1

GenotypeQuality
all individuals: 919
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28368
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1585
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.017708121310808e-4
allele num: 9826
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65832
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.298e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 5.82e0

DP
type: SiteQuality
SIO_000300: 1.702122e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.89e-1

QD
type: SiteQuality
SIO_000300: 1.288e1

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

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4676
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1456
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6518
bin: 9.75e1
variant carriers: 62

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65818
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 63
allele frequency: 3.818181818181818e-3
allele num: 16500
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 1.704298e6

QD
type: SiteQuality
SIO_000300: 1.331e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.353e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

GenotypeQuality
all individuals: 188
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3079
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1589
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28200
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
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: 5
allele frequency: 3.031037827352086e-4
allele num: 16496
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.926e0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

QD
type: SiteQuality
SIO_000300: 1.422e1

FS
type: SiteQuality
SIO_000300: 1.768e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e-1

DP
type: SiteQuality
SIO_000300: 1.70119e6

GenotypeQuality
all individuals: 3079
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28200
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6476
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 206
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1589
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.424830261881668e-4
allele num: 16496
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522023682688503e-5
allele num: 65702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.422e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.926e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

FS
type: SiteQuality
SIO_000300: 1.768e0

DP
type: SiteQuality
SIO_000300: 1.70119e6

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8999
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6476
bin: 9.75e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.613131128570558e-5
allele num: 65676
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

FS
type: SiteQuality
SIO_000300: 3.333e0

VQSLOD
type: SiteQuality
SIO_000300: 7.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.17e-1

DP
type: SiteQuality
SIO_000300: 1.699521e6

QD
type: SiteQuality
SIO_000300: 1.442e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

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

GenotypeQuality
all individuals: 1589
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4664
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65692
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.987e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.87e0

FS
type: SiteQuality
SIO_000300: 2.73e0

VQSLOD
type: SiteQuality
SIO_000300: 2.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.599e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

DP
type: SiteQuality
SIO_000300: 1.699298e6

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6477
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4654
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27901
bin: 6.25e1
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: 9724
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524064986131009e-5
allele num: 65614
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.335e0

DP
type: SiteQuality
SIO_000300: 1.698348e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.041e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.031e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.96e0

GenotypeQuality
all individuals: 235
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6479
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variant carriers: 1

GenotypeQuality
all individuals: 27920
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 3085
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65612
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.939e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

VQSLOD
type: SiteQuality
SIO_000300: -1.905e0

DP
type: SiteQuality
SIO_000300: 1.698419e6

FS
type: SiteQuality
SIO_000300: 6.844e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e0

QD
type: SiteQuality
SIO_000300: 1.697e1

MQRankSum
type: SiteQuality
SIO_000300: -1.53e0

GenotypeQuality
all individuals: 1597
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

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

GenotypeQuality
all individuals: 9022
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4677
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524111443028714e-5
allele num: 65612
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

DP
type: SiteQuality
SIO_000300: 1.699341e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

QD
type: SiteQuality
SIO_000300: 1.494e1

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

GenotypeQuality
all individuals: 3091
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
all individuals: 195
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3966
bin: 7.25e1
variant carriers: 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: 9802
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65788
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 2.182e1

FS
type: SiteQuality
SIO_000300: 5.547e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.704684e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.004e0

MQRankSum
type: SiteQuality
SIO_000300: -7.28e-1

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1466
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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: 1

GenotypeQuality
all individuals: 4691
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65826
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.705266e6

FS
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 7.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

QD
type: SiteQuality
SIO_000300: 1.203e1

GenotypeQuality
all individuals: 248
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 6484
bin: 9.75e1
variant carriers: 3

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.557054320087495e-5
allele num: 65832
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

FS
type: SiteQuality
SIO_000300: 1.757e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.359e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.705544e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9084
bin: 6.75e1
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GenotypeQuality
all individuals: 6489
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1468
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28524
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65948
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.329004329004329e-4
allele num: 11550
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
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: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.275e1

DP
type: SiteQuality
SIO_000300: 1.709333e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.093e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 6489
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513637877274241e-5
allele num: 66066
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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.468e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

DP
type: SiteQuality
SIO_000300: 1.711606e6

GenotypeQuality
all individuals: 174
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3982
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3112
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4703
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66094
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
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: 3.65e0

QD
type: SiteQuality
SIO_000300: 1.476e1

MQRankSum
type: SiteQuality
SIO_000300: -8.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.712521e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

VQSLOD
type: SiteQuality
SIO_000300: -6.83e-2

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.097e0

GenotypeQuality
all individuals: 499
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3122
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3990
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6492
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66370
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
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: 904
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 1.3319e1

QD
type: SiteQuality
SIO_000300: 1.538e1

VQSLOD
type: SiteQuality
SIO_000300: -1.823e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 1.718034e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

GenotypeQuality
all individuals: 1479
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4725
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6492
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9163
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514233797698365e-4
allele num: 6604
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 2.413e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.718853e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.71e-1

QD
type: SiteQuality
SIO_000300: 3.096e1

VQSLOD
type: SiteQuality
SIO_000300: -3.215e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9172
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
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: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.43e-1

DP
type: SiteQuality
SIO_000300: 1.719568e6

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

QD
type: SiteQuality
SIO_000300: 1.719e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 6.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.078e0

GenotypeQuality
all individuals: 9198
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3999
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1481
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
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: 66524
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.288e1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

FS
type: SiteQuality
SIO_000300: 5.669999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

DP
type: SiteQuality
SIO_000300: 1.723092e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

GenotypeQuality
all individuals: 6503
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1606
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29345
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.202573507305634e-4
allele num: 66524
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.288e1

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

DP
type: SiteQuality
SIO_000300: 1.723092e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 5.669999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

GenotypeQuality
all individuals: 1606
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4003
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9209
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29369
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005259203606311e-5
allele num: 66550
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: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

VQSLOD
type: SiteQuality
SIO_000300: 3.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.065e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 1.723451e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

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

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6504
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29379
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502403846153846e-5
allele num: 66560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-2

QD
type: SiteQuality
SIO_000300: 1.496e1

FS
type: SiteQuality
SIO_000300: 4.43e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 5.81e-1

DP
type: SiteQuality
SIO_000300: 1.723422e6

MQRankSum
type: SiteQuality
SIO_000300: -7.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
all individuals: 3136
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6505
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1610
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4003
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4736
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.723947e6

QD
type: SiteQuality
SIO_000300: 7.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 2.789e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

VQSLOD
type: SiteQuality
SIO_000300: -7.433999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1610
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4736
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29370
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
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: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.723947e6

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 7.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.433999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.08e-1

FS
type: SiteQuality
SIO_000300: 2.789e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
all individuals: 1487
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4012
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6505
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1612
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.72762645914397e-5
allele num: 10280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.725872e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e-1

QD
type: SiteQuality
SIO_000300: 1.578e1

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29449
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4017
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.726156e6

MQ
type: SiteQuality
SIO_000300: 5.914e1

FS
type: SiteQuality
SIO_000300: 3.115e0

VQSLOD
type: SiteQuality
SIO_000300: -1.765e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.614e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

QD
type: SiteQuality
SIO_000300: 1.579e1

GenotypeQuality
all individuals: 4014
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6506
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.695559433779329e-5
allele num: 10314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.967e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.727301e6

VQSLOD
type: SiteQuality
SIO_000300: -2.761e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

QD
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SIO_000300: 1.476e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.423e0

MQ
type: SiteQuality
SIO_000300: 4.732e1

MQRankSum
type: SiteQuality
SIO_000300: -1.666e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.728114e6

QD
type: SiteQuality
SIO_000300: 1.579e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.22e0

FS
type: SiteQuality
SIO_000300: 1.124e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3134
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29279
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

DP
type: SiteQuality
SIO_000300: 1.732971e6

VQSLOD
type: SiteQuality
SIO_000300: 5.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.403e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.974e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 2.906976744186046e-4
allele num: 10320
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21300339640951e-4
allele num: 16488
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: 7
allele frequency: 6.049083995852057e-4
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 61
allele frequency: 9.153386753098647e-4
allele num: 66642
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.92e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.974e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 1.403e1

DP
type: SiteQuality
SIO_000300: 1.732971e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 6589
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.974e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

DP
type: SiteQuality
SIO_000300: 1.732971e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.403e1

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29234
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.002581109877247e-5
allele num: 66638
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.686168151879117e-5
allele num: 10324
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: 904
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.564e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.731415e6

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.731157e6

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.336e1

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
SIO_000300: 3.127e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.388e0

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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bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
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: 904
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.851e0

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.682e1

DP
type: SiteQuality
SIO_000300: 1.731504e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

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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bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21256214380987e-4
allele num: 16494
num of homozygotes: 0

European (Finnish)
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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: 10312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.39e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.732245e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4036
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1506
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GenotypeQuality
all individuals: 9295
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 53
allele frequency: 5.135658914728682e-3
allele num: 10320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.25e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

FS
type: SiteQuality
SIO_000300: 1.107e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.372e1

DP
type: SiteQuality
SIO_000300: 1.734855e6

GenotypeQuality
all individuals: 29169
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4050
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GenotypeQuality
all individuals: 3154
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GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.067e0

FS
type: SiteQuality
SIO_000300: 1.032e0

MQRankSum
type: SiteQuality
SIO_000300: -6.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

VQSLOD
type: SiteQuality
SIO_000300: 3.77e-1

QD
type: SiteQuality
SIO_000300: 1.448e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.69e-2

DP
type: SiteQuality
SIO_000300: 1.733756e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.937e1

FS
type: SiteQuality
SIO_000300: 4.958e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.51e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.559e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 1.733814e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.98e-1

QD
type: SiteQuality
SIO_000300: 1.625e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.94e0

GenotypeQuality
all individuals: 123
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.734502e6

FS
type: SiteQuality
SIO_000300: 1.315e0

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.948e0

QD
type: SiteQuality
SIO_000300: 1.279e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.735298e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 1.593e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-2

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.957e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

QD
type: SiteQuality
SIO_000300: 1.127e1

FS
type: SiteQuality
SIO_000300: 6.919999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.735732e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

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
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 3.635041802980734e-4
allele num: 16506
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.402e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.71e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.224e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.377e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

DP
type: SiteQuality
SIO_000300: 1.736377e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10244
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 9.51e-1

QD
type: SiteQuality
SIO_000300: 1.205e1

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

DP
type: SiteQuality
SIO_000300: 1.736577e6

VQSLOD
type: SiteQuality
SIO_000300: 4.96e-1

ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.908e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-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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variant carriers: 2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66702
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South Asian
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allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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: 3.071e0

DP
type: SiteQuality
SIO_000300: 1.736511e6

InbreedingCoeff
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SIO_000300: 3.0e-4

MQ
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