2-231112824-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231112824
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231112824
    reference: chr 2
allele count: 1
allele frequency: 8.418925745074929e-6
allele num: 118780
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.734-776A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.892+44A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.683-776A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.892+44A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.814+44A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.665-776A>G
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6401
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
reference allele: A
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

2-231113552-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231113552
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231113552
    reference: chr 2
allele count: 1
allele frequency: 8.384619254439656e-6
allele num: 119266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.815-48G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.893-48G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.665-48G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.893-48G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.734-48G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.683-48G>T
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8963
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

2-231113557-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231113557
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231113557
    reference: chr 2
allele count: 36
allele frequency: 3.018513549771934e-4
allele num: 119264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.815-43C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.893-43C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.734-43C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.893-43C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.683-43C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.665-43C>T
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11294
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16681
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10373
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8985
  bin: 9.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 3801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 2
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-231113561-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231113561
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231113561
    reference: chr 2
allele count: 27
allele frequency: 2.260246450575944e-4
allele num: 119456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.893-39T>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.815-39T>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.683-39T>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.734-39T>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.893-39T>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.665-39T>A
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10953
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16978
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2752
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8962
  bin: 9.75e1
  variant carriers: 27
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-231113565-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231113565
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231113563
    reference: chr 2
allele count: 5
allele frequency: 4.184590663341312e-5
allele num: 119486
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.683-32_683-31delCT
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.665-32_665-31delCT
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.815-32_815-31delCT
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.893-32_893-31delCT
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.893-32_893-31delCT
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.734-32_734-31delCT
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5523
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3776
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: CCT
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

2-231113568-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231113568
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231113568
    reference: chr 2
allele count: 50
allele frequency: 4.181301220939957e-4
allele num: 119580
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.734-32C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.665-32C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.815-32C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.683-32C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.893-32C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.893-32C>T
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17594
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11363
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11907
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27561
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8963
  bin: 9.75e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

2-231113581-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231113581
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231113581
    reference: chr 2
allele count: 3
allele frequency: 2.500333377783705e-5
allele num: 119984
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.893-19A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.734-19A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.815-19A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.665-19A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.893-19A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.683-19A>G
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18410
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8922
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD

2-231113585-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231113585
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231113585
    reference: chr 2
allele count: 1
allele frequency: 8.329862557267805e-6
allele num: 120050
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.893-15C>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.683-15C>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.815-15C>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.893-15C>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.665-15C>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.734-15C>G
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8919
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30483
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

2-231113592-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231113592
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231113592
    reference: chr 2
allele count: 2
allele frequency: 1.66347833319471e-5
allele num: 120230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.815-8A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.893-8A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.683-8A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.893-8A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.665-8A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.734-8A>G
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
hgvs: c.893-8A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-231113597-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231113597
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231113597
    reference: chr 2
allele count: 1
allele frequency: 8.309788931361144e-6
allele num: 120340
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.893-3C>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.734-3C>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.665-3C>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.683-3C>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.815-3C>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.893-3C>G
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2731
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3751
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8918
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31303
  bin: 6.25e1
  variant carriers: 0
hgvs: c.893-3C>G
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-231113601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231113601
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231113601
    reference: chr 2
allele count: 1
allele frequency: 8.304820117596252e-6
allele num: 120412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.816G>A
  hgvsp: ENST00000343805.6:c.816G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.735G>A
  hgvsp: ENST00000417495.3:c.735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.894G>A
  hgvsp: ENST00000420434.3:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.666G>A
  hgvsp: ENST00000486687.2:c.666G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.894G>A
  hgvsp: ENST00000392045.3:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.684G>A
  hgvsp: ENST00000350136.5:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7337
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31509
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: c.894G>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

2-231113616-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231113616
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231113616
    reference: chr 2
allele count: 5
allele frequency: 4.147037356512508e-5
allele num: 120568
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.909A>G
  hgvsp: ENST00000420434.3:c.909A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.831A>G
  hgvsp: ENST00000343805.6:c.831A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.699A>G
  hgvsp: ENST00000350136.5:c.699A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.681A>G
  hgvsp: ENST00000486687.2:c.681A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.750A>G
  hgvsp: ENST00000417495.3:c.750A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.909A>G
  hgvsp: ENST00000392045.3:c.909A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7365
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8920
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys303Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

2-231113618-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231113618
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231113618
    reference: chr 2
allele count: 27
allele frequency: 2.239363025628266e-4
allele num: 120570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.911C>T
  hgvsp: ENSP00000398210.3:p.Thr304Ile
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.683C>T
  hgvsp: ENSP00000440107.1:p.Thr228Ile
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.833C>T
  hgvsp: ENSP00000342096.6:p.Thr278Ile
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.752C>T
  hgvsp: ENSP00000393618.3:p.Thr251Ile
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.701C>T
  hgvsp: ENSP00000345846.5:p.Thr234Ile
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.911C>T
  hgvsp: ENSP00000375899.3:p.Thr304Ile
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11537
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19046
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr304Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-231113624-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231113624
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231113624
    reference: chr 2
allele count: 2
allele frequency: 1.658319790388379e-5
allele num: 120604
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.917A>G
  hgvsp: ENSP00000398210.3:p.Gln306Arg
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.917A>G
  hgvsp: ENSP00000375899.3:p.Gln306Arg
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.758A>G
  hgvsp: ENSP00000393618.3:p.Gln253Arg
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.689A>G
  hgvsp: ENSP00000440107.1:p.Gln230Arg
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.707A>G
  hgvsp: ENSP00000345846.5:p.Gln236Arg
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.839A>G
  hgvsp: ENSP00000342096.6:p.Gln280Arg
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3742
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln306Arg
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-231113640-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231113640
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231113640
    reference: chr 2
allele count: 1
allele frequency: 8.290361625574107e-6
allele num: 120622
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.774A>C
  hgvsp: ENST00000417495.3:c.774A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.855A>C
  hgvsp: ENST00000343805.6:c.855A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.723A>C
  hgvsp: ENST00000350136.5:c.723A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.705A>C
  hgvsp: ENST00000486687.2:c.705A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.933A>C
  hgvsp: ENST00000420434.3:c.933A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.933A>C
  hgvsp: ENST00000392045.3:c.933A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7379
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly311Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-231113644-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231113644
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231113644
    reference: chr 2
allele count: 9
allele frequency: 7.461572899567229e-5
allele num: 120618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.727C>A
  hgvsp: ENSP00000345846.5:p.Pro243Thr
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.937C>A
  hgvsp: ENSP00000398210.3:p.Pro313Thr
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.778C>A
  hgvsp: ENSP00000393618.3:p.Pro260Thr
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.859C>A
  hgvsp: ENSP00000342096.6:p.Pro287Thr
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.937C>A
  hgvsp: ENSP00000375899.3:p.Pro313Thr
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.709C>A
  hgvsp: ENSP00000440107.1:p.Pro237Thr
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31920
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro313Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

2-231113654-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231113654
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231113654
    reference: chr 2
allele count: 1
allele frequency: 8.291461452995706e-6
allele num: 120606
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.788G>A
  hgvsp: ENSP00000393618.3:p.Gly263Glu
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.947G>A
  hgvsp: ENSP00000375899.3:p.Gly316Glu
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.719G>A
  hgvsp: ENSP00000440107.1:p.Gly240Glu
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.737G>A
  hgvsp: ENSP00000345846.5:p.Gly246Glu
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.869G>A
  hgvsp: ENSP00000342096.6:p.Gly290Glu
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.947G>A
  hgvsp: ENSP00000398210.3:p.Gly316Glu
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8907
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7380
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly316Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

2-231113671-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231113671
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231113671
    reference: chr 2
allele count: 2
allele frequency: 1.659888787451241e-5
allele num: 120490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.736G>A
  hgvsp: ENSP00000440107.1:p.Gly246Ser
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.754G>A
  hgvsp: ENSP00000345846.5:p.Gly252Ser
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.805G>A
  hgvsp: ENSP00000393618.3:p.Gly269Ser
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.886G>A
  hgvsp: ENSP00000342096.6:p.Gly296Ser
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.964G>A
  hgvsp: ENSP00000375899.3:p.Gly322Ser
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.964G>A
  hgvsp: ENSP00000398210.3:p.Gly322Ser
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly322Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-231113674-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231113674
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231113674
    reference: chr 2
allele count: 1
allele frequency: 8.304682179812978e-6
allele num: 120414
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.967G>A
  hgvsp: ENSP00000375899.3:p.Glu323Lys
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.757G>A
  hgvsp: ENSP00000345846.5:p.Glu253Lys
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.889G>A
  hgvsp: ENSP00000342096.6:p.Glu297Lys
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.739G>A
  hgvsp: ENSP00000440107.1:p.Glu247Lys
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.808G>A
  hgvsp: ENSP00000393618.3:p.Glu270Lys
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.967G>A
  hgvsp: ENSP00000398210.3:p.Glu323Lys
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu323Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

2-231113680-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231113680
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231113680
    reference: chr 2
allele count: 1
allele frequency: 8.316561600771776e-6
allele num: 120242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.895G>C
  hgvsp: ENSP00000342096.6:p.Glu299Gln
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.763G>C
  hgvsp: ENSP00000345846.5:p.Glu255Gln
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.745G>C
  hgvsp: ENSP00000440107.1:p.Glu249Gln
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.814G>C
  hgvsp: ENSP00000393618.3:p.Glu272Gln
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.973G>C
  hgvsp: ENSP00000375899.3:p.Glu325Gln
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.973G>C
  hgvsp: ENSP00000398210.3:p.Glu325Gln
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu325Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

2-231113683-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231113683
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231113683
    reference: chr 2
allele count: 1
allele frequency: 8.329030001166064e-6
allele num: 120062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.898G>T
  hgvsp: ENSP00000342096.6:p.Glu300Ter
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817G>T
  hgvsp: ENSP00000393618.3:p.Glu273Ter
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.748G>T
  hgvsp: ENSP00000440107.1:p.Glu250Ter
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.976G>T
  hgvsp: ENSP00000375899.3:p.Glu326Ter
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766G>T
  hgvsp: ENSP00000345846.5:p.Glu256Ter
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.976G>T
  hgvsp: ENSP00000398210.3:p.Glu326Ter
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu326Ter
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-231113726-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231113726
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231113726
    reference: chr 2
allele count: 6
allele frequency: 5.115351168857742e-5
allele num: 117294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.898+43T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+43T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+43T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.976+43T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.748+43T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.976+43T>C
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7975
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5398
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12538
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9856
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3693
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8897
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4032
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-231115651-G-GTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115651
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115653
    reference: chr 2
allele count: 1
allele frequency: 8.378296859814337e-6
allele num: 119356
alternate allele: GTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.977-42_977-41dupTT
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+1971_766+1972dupTT
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.899-42_899-41dupTT
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.749-42_749-41dupTT
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.977-42_977-41dupTT
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+1971_817+1972dupTT
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 15500
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3584
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7988
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
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: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-231115663-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115663
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115663
    reference: chr 2
allele count: 1
allele frequency: 8.364001338240215e-6
allele num: 119560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+1980T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.749-33T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.899-33T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+1980T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.977-33T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.977-33T>C
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3590
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-231115672-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115672
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115672
    reference: chr 2
allele count: 5
allele frequency: 4.170280910122106e-5
allele num: 119896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.899-24G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.749-24G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.977-24G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+1989G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+1989G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.977-24G>A
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-231115674-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115674
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115674
    reference: chr 2
allele count: 1
allele frequency: 8.333194446759221e-6
allele num: 120002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+1991G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.899-22G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.977-22G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.749-22G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+1991G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.977-22G>A
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3601
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7995
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7433
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD

2-231115676-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115676
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115676
    reference: chr 2
allele count: 24
allele frequency: 1.999067102019058e-4
allele num: 120056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.899-20G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+1993G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+1993G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.977-20G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.977-20G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.749-20G>T
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19198
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9091
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20080
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8012
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 31972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

2-231115721-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115721
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115721
    reference: chr 2
allele count: 6
allele frequency: 4.975949577044286e-5
allele num: 120580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1002G>A
  hgvsp: ENSP00000398210.3:p.Met334Ile
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1002G>A
  hgvsp: ENSP00000375899.3:p.Met334Ile
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+2038G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+2038G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.924G>A
  hgvsp: ENSP00000342096.6:p.Met308Ile
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.774G>A
  hgvsp: ENSP00000440107.1:p.Met258Ile
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7999
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32714
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met334Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP

2-231115723-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115723
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115723
    reference: chr 2
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+2040G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.776G>A
  hgvsp: ENSP00000440107.1:p.Cys259Tyr
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.926G>A
  hgvsp: ENSP00000342096.6:p.Cys309Tyr
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1004G>A
  hgvsp: ENSP00000375899.3:p.Cys335Tyr
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1004G>A
  hgvsp: ENSP00000398210.3:p.Cys335Tyr
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+2040G>A
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32741
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys335Tyr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-231115726-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115726
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115726
    reference: chr 2
allele count: 2
allele frequency: 1.658457303016734e-5
allele num: 120594
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.929A>G
  hgvsp: ENSP00000342096.6:p.Asp310Gly
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.779A>G
  hgvsp: ENSP00000440107.1:p.Asp260Gly
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1007A>G
  hgvsp: ENSP00000398210.3:p.Asp336Gly
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1007A>G
  hgvsp: ENSP00000375899.3:p.Asp336Gly
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+2043A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+2043A>G
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32717
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp336Gly
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

2-231115727-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115727
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115727
    reference: chr 2
allele count: 1
allele frequency: 8.29242404139578e-6
allele num: 120592
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.780T>C
  hgvsp: ENST00000486687.2:c.780T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+2044T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1008T>C
  hgvsp: ENST00000420434.3:c.1008T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1008T>C
  hgvsp: ENST00000392045.3:c.1008T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+2044T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.930T>C
  hgvsp: ENST00000343805.6:c.930T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32711
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp336Asp
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

2-231115730-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115730
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115730
    reference: chr 2
allele count: 1
allele frequency: 8.292974192264313e-6
allele num: 120584
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1011A>G
  hgvsp: ENST00000392045.3:c.1011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.933A>G
  hgvsp: ENST00000343805.6:c.933A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.783A>G
  hgvsp: ENST00000486687.2:c.783A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+2047A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1011A>G
  hgvsp: ENST00000420434.3:c.1011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+2047A>G
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7996
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7537
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly337Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-231115738-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115738
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115738
    reference: chr 2
allele count: 1
allele frequency: 8.294900295298451e-6
allele num: 120556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+2055C>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1019C>A
  hgvsp: ENSP00000375899.3:p.Pro340His
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.941C>A
  hgvsp: ENSP00000342096.6:p.Pro314His
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1019C>A
  hgvsp: ENSP00000398210.3:p.Pro340His
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+2055C>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.791C>A
  hgvsp: ENSP00000440107.1:p.Pro264His
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro340His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

2-231115738-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115738
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115738
    reference: chr 2
allele count: 1
allele frequency: 8.294900295298451e-6
allele num: 120556
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+2055C>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.791C>G
  hgvsp: ENSP00000440107.1:p.Pro264Arg
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+2055C>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1019C>G
  hgvsp: ENSP00000375899.3:p.Pro340Arg
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.941C>G
  hgvsp: ENSP00000342096.6:p.Pro314Arg
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1019C>G
  hgvsp: ENSP00000398210.3:p.Pro340Arg
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7997
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro340Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

2-231115754-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115754
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115754
    reference: chr 2
allele count: 1
allele frequency: 8.303440945927993e-6
allele num: 120432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.957C>T
  hgvsp: ENST00000343805.6:c.957C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1035C>T
  hgvsp: ENST00000392045.3:c.1035C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1035C>T
  hgvsp: ENST00000420434.3:c.1035C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.807C>T
  hgvsp: ENST00000486687.2:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+2071C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+2071C>T
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9147
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7995
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser345Ser
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

2-231115758-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115758
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115758
    reference: chr 2
allele count: 7
allele frequency: 5.816175615268292e-5
allele num: 120354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+2075C>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+2075C>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.811C>G
  hgvsp: ENSP00000440107.1:p.Leu271Val
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1039C>G
  hgvsp: ENSP00000398210.3:p.Leu347Val
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.961C>G
  hgvsp: ENSP00000342096.6:p.Leu321Val
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1039C>G
  hgvsp: ENSP00000375899.3:p.Leu347Val
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9139
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7463
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu347Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-231115762-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115762
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115762
    reference: chr 2
allele count: 2
allele frequency: 1.66267624368183e-5
allele num: 120288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+2079C>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.965C>A
  hgvsp: ENSP00000342096.6:p.Ala322Glu
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+2079C>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1043C>A
  hgvsp: ENSP00000375899.3:p.Ala348Glu
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1043C>A
  hgvsp: ENSP00000398210.3:p.Ala348Glu
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.815C>A
  hgvsp: ENSP00000440107.1:p.Ala272Glu
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19434
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7994
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala348Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

2-231115774-C-CAGGTAAAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115774
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115782
    reference: chr 2
allele count: 30
allele frequency: 2.503463123988184e-4
allele num: 119834
alternate allele: CAGGTAAAG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.979_979+7dupGGTAAAGA
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.829_829+7dupGGTAAAGA
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1057_1057+7dupGGTAAAGA
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1057_1057+7dupGGTAAAGA
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9150
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19503
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18363
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-231115775-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115775
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115775
    reference: chr 2
allele count: 1
allele frequency: 8.357290900581667e-6
allele num: 119656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.828A>C
  hgvsp: ENST00000486687.2:c.828A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1056A>C
  hgvsp: ENST00000420434.3:c.1056A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.978A>C
  hgvsp: ENST00000343805.6:c.978A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1056A>C
  hgvsp: ENST00000392045.3:c.1056A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+2092A>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+2092A>C
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29971
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1056A>C
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-231115785-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115785
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115785
    reference: chr 2
allele count: 4
allele frequency: 3.354747806833622e-5
allele num: 119234
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1057+9G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1057+9G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+2102G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.829+9G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.979+9G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+2102G>T
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9097
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-231115787-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115787
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115787
    reference: chr 2
allele count: 8
allele frequency: 6.718059824322735e-5
allele num: 119082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.979+11G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1057+11G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+2104G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1057+11G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.829+11G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+2104G>A
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19073
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16502
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9098
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7063
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27480
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3537
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP

2-231115790-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115790
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115790
    reference: chr 2
allele count: 16322
allele frequency: 1.376036959600729e-1
allele num: 118616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+2107G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1057+14G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.979+14G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.829+14G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1057+14G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+2107G>A
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12972
  bin: 2.25e1
  variant carriers: 1124
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 297
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 3.75e1
  variant carriers: 2118
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 1.25e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.25e1
  variant carriers: 350
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 4.25e1
  variant carriers: 1734
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 9.75e1
  variant carriers: 477
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 1.75e1
  variant carriers: 554
genotype depth: GenotypeDepth
  all individuals: 17007
  bin: 2.75e1
  variant carriers: 1762
genotype depth: GenotypeDepth
  all individuals: 8605
  bin: 3.25e1
  variant carriers: 2124
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 5.25e1
  variant carriers: 948
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.75e1
  variant carriers: 719
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 400
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 4.75e1
  variant carriers: 1313
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.25e1
  variant carriers: 548
genotype quality: GenotypeQuality
  all individuals: 5239
  bin: 6.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 2.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 3.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 3.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.25e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 23062
  bin: 6.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 8.25e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 18664
  bin: 9.75e1
  variant carriers: 14432
num of homozygotes: 1338
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

2-231115791-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115791
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115791
    reference: chr 2
allele count: 2
allele frequency: 1.692247812769702e-5
allele num: 118186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+2108G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+2108G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1057+15G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.979+15G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.829+15G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1057+15G>A
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21154
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7043
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5757
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-231115806-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115806
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115806
    reference: chr 2
allele count: 1
allele frequency: 8.575005573753624e-6
allele num: 116618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+2123G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.979+30G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+2123G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1057+30G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1057+30G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.829+30G>A
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5517
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5629
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5729
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-231115813-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115813
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115813
    reference: chr 2
allele count: 8
allele frequency: 6.914792469791001e-5
allele num: 115694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.829+37A>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.979+37A>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+2130A>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1057+37A>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1057+37A>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+2130A>C
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13409
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5851
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5721
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 4851
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

2-231115813-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115813
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115813
    reference: chr 2
allele count: 1
allele frequency: 8.643490587238751e-6
allele num: 115694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.829+37A>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+2130A>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1057+37A>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.979+37A>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+2130A>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1057+37A>T
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5721
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5851
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

2-231115825-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231115825
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231115825
    reference: chr 2
allele count: 2
allele frequency: 1.761804087385483e-5
allele num: 113520
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.829+49T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.817+2142T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.766+2142T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.979+49T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1057+49T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1057+49T>C
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12925
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9106
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5073
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5633
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5041
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-231117982-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231117982
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231117982
    reference: chr 2
allele count: 1
allele frequency: 8.440670526866655e-6
allele num: 118474
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1058-49C>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2185C>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.830-49C>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2185C>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1058-49C>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2185C>A
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7747
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9999
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3797
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17134
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

2-231117982-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231117982
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231117982
    reference: chr 2
allele count: 2
allele frequency: 1.688134105373331e-5
allele num: 118474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.830-49C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2185C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2185C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1058-49C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1058-49C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2185C>T
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7747
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10688
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4319
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17134
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

2-231117983-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231117983
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231117983
    reference: chr 2
allele count: 13
allele frequency: 1.095419461390677e-4
allele num: 118676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2184G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.830-48G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1058-48G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2184G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2184G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1058-48G>A
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10142
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7328
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10675
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8212
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5715
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12189
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17140
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3799
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

2-231117984-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231117984
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231117983
    reference: chr 2
allele count: 1
allele frequency: 8.415383320710258e-6
allele num: 118830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2182delG
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2182delG
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2182delG
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1058-46delG
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.830-46delG
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1058-46delG
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3815
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: TG
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

2-231117989-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231117989
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231117989
    reference: chr 2
allele count: 25
allele frequency: 2.102324329779004e-4
allele num: 118916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2178G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2178G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1058-42G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1058-42G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.830-42G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2178G>T
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9312
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10952
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10405
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7341
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17161
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/2-231117991-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231117991
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231117991
    reference: chr 2
allele count: 1
allele frequency: 8.394050297149381e-6
allele num: 119132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1058-40A>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2176A>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.830-40A>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2176A>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2176A>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1058-40A>C
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10473
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5927
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

2-231117991-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231117991
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231117991
    reference: chr 2
allele count: 1
allele frequency: 8.394050297149381e-6
allele num: 119132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1058-40A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.830-40A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2176A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2176A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2176A>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1058-40A>G
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17159
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5927
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-231117997-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231117997
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231117997
    reference: chr 2
allele count: 5
allele frequency: 4.193927193423922e-5
allele num: 119220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2170G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1058-34G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1058-34G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2170G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2170G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.830-34G>A
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10658
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11389
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3867
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS

2-231117998-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231117998
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231117998
    reference: chr 2
allele count: 25
allele frequency: 2.095733087433984e-4
allele num: 119290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2169T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1058-33T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2169T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2169T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1058-33T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.830-33T>C
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10656
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10710
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3881
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16360
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4461
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

2-231118001-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231118001
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231118001
    reference: chr 2
allele count: 3
allele frequency: 2.513699663164245e-5
allele num: 119346
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1058-30G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2166G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1058-30G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2166G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.830-30G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2166G>A
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11108
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3882
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

2-231118003-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231118003
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231118003
    reference: chr 2
allele count: 1
allele frequency: 8.372264362619514e-6
allele num: 119442
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1058-28G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2164G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2164G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.830-28G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2164G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1058-28G>A
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3890
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4472
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2962
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

2-231118005-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231118005
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231118005
    reference: chr 2
allele count: 3
allele frequency: 2.509158428263161e-5
allele num: 119562
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.830-26C>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2162C>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2162C>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1058-26C>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2162C>G
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1058-26C>G
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17468
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

2-231118014-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231118014
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231118014
    reference: chr 2
allele count: 3
allele frequency: 2.501876407305479e-5
allele num: 119910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2153C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2153C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.830-17C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1058-17C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1058-17C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2153C>T
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11825
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17213
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

2-231118016-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231118016
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231118016
    reference: chr 2
allele count: 1
allele frequency: 8.333472224537076e-6
allele num: 119998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2151T>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1058-15T>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.830-15T>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1058-15T>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2151T>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2151T>A
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18775
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4558
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

2-231118022-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231118022
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231118022
    reference: chr 2
allele count: 1
allele frequency: 8.318360284820657e-6
allele num: 120216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.830-9G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1058-9G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2145G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1058-9G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2145G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2145G>A
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11001
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19256
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3944
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17218
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

2-231118022-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231118022
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231118022
    reference: chr 2
allele count: 1
allele frequency: 8.318360284820657e-6
allele num: 120216
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1058-9G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.830-9G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2145G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2145G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1058-9G>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2145G>T
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17218
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

2-231118027-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231118027
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231118027
    reference: chr 2
allele count: 1
allele frequency: 8.308546170591069e-6
allele num: 120358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1058-4T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2140T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2140T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.830-4T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1058-4T>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2140T>C
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4584
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6308
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1058-4T>C
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

2-231118030-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231118030
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231118030
    reference: chr 2
allele count: 2
allele frequency: 1.660881263598465e-5
allele num: 120418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2137G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2137G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1058-1G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1058-1G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.830-1G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2137G>A
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4584
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  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: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2980
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1058-1G>A
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

2-231118030-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231118030
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231118030
    reference: chr 2
allele count: 2
allele frequency: 1.660881263598465e-5
allele num: 120418
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2137G>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1058-1G>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.830-1G>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2137G>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1058-1G>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2137G>C
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11062
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4584
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17228
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1058-1G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ

2-231118037-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231118037
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231118037
    reference: chr 2
allele count: 2
allele frequency: 1.65977858553669e-5
allele num: 120498
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2130G>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1064G>C
  hgvsp: ENSP00000375899.3:p.Cys355Ser
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2130G>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2130G>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.836G>C
  hgvsp: ENSP00000440107.1:p.Cys279Ser
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1064G>C
  hgvsp: ENSP00000398210.3:p.Cys355Ser
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2982
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3965
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys355Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

2-231118040-T-TAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231118040
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231118042
    reference: chr 2
allele count: 1
allele frequency: 8.297240337863626e-6
allele num: 120522
alternate allele: TAC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.840_841insCA
  hgvsp: ENSP00000440107.1:p.Ser281HisfsTer8
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1068_1069insCA
  hgvsp: ENSP00000375899.3:p.Ser357HisfsTer8
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2126_818-2125insCA
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2126_980-2125insCA
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2126_767-2125insCA
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1068_1069insCA
  hgvsp: ENSP00000398210.3:p.Ser357HisfsTer8
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11074
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17232
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6341
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4607
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser357HisfsTer8
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-231118041-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231118041
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231118041
    reference: chr 2
allele count: 15002
allele frequency: 1.244318370326134e-1
allele num: 120564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1068A>C
  hgvsp: ENSP00000398210.3:p.Leu356Phe
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.840A>C
  hgvsp: ENSP00000440107.1:p.Leu280Phe
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2126A>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2126A>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1068A>C
  hgvsp: ENSP00000375899.3:p.Leu356Phe
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2126A>C
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 9.75e1
  variant carriers: 3147
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 5.75e1
  variant carriers: 884
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 8.75e1
  variant carriers: 796
genotype depth: GenotypeDepth
  all individuals: 8989
  bin: 3.25e1
  variant carriers: 382
genotype depth: GenotypeDepth
  all individuals: 9472
  bin: 2.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 3.75e1
  variant carriers: 516
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 8.25e1
  variant carriers: 957
genotype depth: GenotypeDepth
  all individuals: 10698
  bin: 2.75e1
  variant carriers: 232
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 4.25e1
  variant carriers: 602
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 6.75e1
  variant carriers: 1103
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.75e1
  variant carriers: 689
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 7.25e1
  variant carriers: 1102
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 6.25e1
  variant carriers: 1000
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 5.25e1
  variant carriers: 829
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 7.75e1
  variant carriers: 976
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.25e1
  variant carriers: 617
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3473
  bin: 7.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 5037
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 8.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 25665
  bin: 9.75e1
  variant carriers: 13890
genotype quality: GenotypeQuality
  all individuals: 17024
  bin: 6.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 3
hgvs: p.Leu356Phe
num of homozygotes: 1013
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

2-231118045-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231118045
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231118045
    reference: chr 2
allele count: 22
allele frequency: 1.82406102313241e-4
allele num: 120610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2122G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2122G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.844G>A
  hgvsp: ENSP00000440107.1:p.Ala282Thr
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1072G>A
  hgvsp: ENSP00000375899.3:p.Ala358Thr
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2122G>A
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1072G>A
  hgvsp: ENSP00000398210.3:p.Ala358Thr
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3831
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2891
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21358
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala358Thr
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

2-231118051-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231118051
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231118051
    reference: chr 2
allele count: 3
allele frequency: 2.486861083939851e-5
allele num: 120634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.850A>T
  hgvsp: ENSP00000440107.1:p.Thr284Ser
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2116A>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1078A>T
  hgvsp: ENSP00000398210.3:p.Thr360Ser
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2116A>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1078A>T
  hgvsp: ENSP00000375899.3:p.Thr360Ser
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2116A>T
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16088
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr360Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

2-231118053-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231118053
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231118053
    reference: chr 2
allele count: 1
allele frequency: 8.289399515899069e-6
allele num: 120636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2114C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1080C>T
  hgvsp: ENST00000420434.3:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2114C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2114C>T
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.852C>T
  hgvsp: ENST00000486687.2:c.852C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1080C>T
  hgvsp: ENST00000392045.3:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr360Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

2-231118057-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231118057
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231118057
    reference: chr 2
allele count: 2
allele frequency: 1.657577616071872e-5
allele num: 120658
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000393618
  ensembl transcript: ENST00000417495
  gene symbol: SP140
  hgvsc: ENST00000417495.3:c.818-2110G>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000398210
  ensembl transcript: ENST00000420434
  gene symbol: SP140
  hgvsc: ENST00000420434.3:c.1084G>C
  hgvsp: ENSP00000398210.3:p.Asp362His
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000440107
  ensembl transcript: ENST00000486687
  gene symbol: SP140
  hgvsc: ENST00000486687.2:c.856G>C
  hgvsp: ENSP00000440107.1:p.Asp286His
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000342096
  ensembl transcript: ENST00000343805
  gene symbol: SP140
  hgvsc: ENST00000343805.6:c.980-2110G>C
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000375899
  ensembl transcript: ENST00000392045
  gene symbol: SP140
  hgvsc: ENST00000392045.3:c.1084G>C
  hgvsp: ENSP00000375899.3:p.Asp362His
  variant of: http://identifiers.org/hgnc/17133
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079263
  ensembl protein: ENSP00000345846
  ensembl transcript: ENST00000350136
  gene symbol: SP140
  hgvsc: ENST00000350136.5:c.767-2110G>C
  variant of: http://identifiers.org/hgnc/17133
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp362His
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 2117
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39065
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2597
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3098
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66130
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.53765690376569e-5
allele num: 15296
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.27e1

FS
type: SiteQuality
SIO_000300: 5.029e0

DP
type: SiteQuality
SIO_000300: 3.165694e6

VQSLOD
type: SiteQuality
SIO_000300: 2.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.056e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.803e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3923
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 22526
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1229
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518003521768171e-5
allele num: 65876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.657e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.69e0

DP
type: SiteQuality
SIO_000300: 2.0464e6

FS
type: SiteQuality
SIO_000300: 1.984e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 1.323e1

GenotypeQuality
all individuals: 1346
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7085
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1743
bin: 9.25e1
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: 6560
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 35
allele frequency: 2.143032084251776e-3
allele num: 16332
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65882
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

QD
type: SiteQuality
SIO_000300: 1.475e1

FS
type: SiteQuality
SIO_000300: 3.513e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.93e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.93e-1

DP
type: SiteQuality
SIO_000300: 2.055889e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

GenotypeQuality
all individuals: 700
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3792
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2710
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1292
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.334141610087294e-4
allele num: 65984
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 4.113533525298231e-4
allele num: 9724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.736676568233443e-5
allele num: 11446
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

DP
type: SiteQuality
SIO_000300: 2.062301e6

FS
type: SiteQuality
SIO_000300: 8.62e-1

QD
type: SiteQuality
SIO_000300: 1.44e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

GenotypeQuality
all individuals: 1085
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8944
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26651
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1735
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.105751618024179e-5
allele num: 16378
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.492229788720098e-4
allele num: 11454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65988
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.085e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.71e-1

FS
type: SiteQuality
SIO_000300: 2.74e0

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

DP
type: SiteQuality
SIO_000300: 2.071205e6

QD
type: SiteQuality
SIO_000300: 1.786e1

GenotypeQuality
all individuals: 2691
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2736
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.735150244584206e-5
allele num: 11448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

African
type: Population
allele count: 49
allele frequency: 5.034936292642828e-3
allele num: 9732
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66040
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.584e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

FS
type: SiteQuality
SIO_000300: 2.489e0

QD
type: SiteQuality
SIO_000300: 1.414e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

DP
type: SiteQuality
SIO_000300: 2.077714e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

GenotypeQuality
all individuals: 493
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3739
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2685
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 3.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.215953307392996e-4
allele num: 16448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66262
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.170138076293003e-4
allele num: 8546
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.53e0

VQSLOD
type: SiteQuality
SIO_000300: -1.694e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 2.009e0

MQ
type: SiteQuality
SIO_000300: 5.205e1

DP
type: SiteQuality
SIO_000300: 2.099704e6

MQRankSum
type: SiteQuality
SIO_000300: -2.025e0

QD
type: SiteQuality
SIO_000300: 1.661e1

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

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7289
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2730
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3741
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.103152e6

MQRankSum
type: SiteQuality
SIO_000300: 6.79e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 3745
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8920
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1730
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2741
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31012
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505661286437003e-5
allele num: 66416
num of homozygotes: 0

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.26e-1

FS
type: SiteQuality
SIO_000300: 9.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 2.108285e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.05e0

QD
type: SiteQuality
SIO_000300: 1.524e1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

VQSLOD
type: SiteQuality
SIO_000300: -8.348e-1

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2680
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7320
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 98
bin: 3.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
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: 0
allele frequency: 0.0e0
allele num: 66488
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
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: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

DP
type: SiteQuality
SIO_000300: 2.111577e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e-1

QD
type: SiteQuality
SIO_000300: 1.123e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

GenotypeQuality
all individuals: 1731
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2682
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8917
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3747
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502810255177181e-5
allele num: 66542
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e0

QD
type: SiteQuality
SIO_000300: 1.196e1

MQ
type: SiteQuality
SIO_000300: 5.866e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.957e0

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: -2.476e0

DP
type: SiteQuality
SIO_000300: 2.11353e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.507e0

GenotypeQuality
all individuals: 3738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31861
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2741
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2683
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

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

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

African
type: Population
allele count: 5
allele frequency: 5.102040816326531e-4
allele num: 9800
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.378e1

MQ
type: SiteQuality
SIO_000300: 5.446e1

FS
type: SiteQuality
SIO_000300: 5.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

MQRankSum
type: SiteQuality
SIO_000300: -2.991e0

VQSLOD
type: SiteQuality
SIO_000300: -8.501e-1

DP
type: SiteQuality
SIO_000300: 2.117362e6

GenotypeQuality
all individuals: 1133
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2681
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8932
bin: 9.75e1
variant carriers: 27

GenotypeQuality
all individuals: 1730
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
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: 11506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

African
type: Population
allele count: 27
allele frequency: 2.755102040816327e-3
allele num: 9800
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

DP
type: SiteQuality
SIO_000300: 2.118402e6

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

QD
type: SiteQuality
SIO_000300: 1.214e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

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

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

GenotypeQuality
all individuals: 7374
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8912
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31915
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.795e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.01e-2

DP
type: SiteQuality
SIO_000300: 2.11816e6

MQRankSum
type: SiteQuality
SIO_000300: -1.514e0

VQSLOD
type: SiteQuality
SIO_000300: -2.295e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

FS
type: SiteQuality
SIO_000300: 2.551e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.86e-1

GenotypeQuality
all individuals: 1136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31924
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8912
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3746
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2742
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 5.852e0

QD
type: SiteQuality
SIO_000300: 1.032e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.05e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

MQRankSum
type: SiteQuality
SIO_000300: -1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 2.118629e6

VQSLOD
type: SiteQuality
SIO_000300: -1.138e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 2738
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8918
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 84
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3747
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7378
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
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: 2
allele frequency: 2.999400119976005e-5
allele num: 66680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.239854633555421e-4
allele num: 16510
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.67e-1

QD
type: SiteQuality
SIO_000300: 1.048e1

FS
type: SiteQuality
SIO_000300: 1.774e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.417e0

DP
type: SiteQuality
SIO_000300: 2.118958e6

GenotypeQuality
all individuals: 3746
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31902
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1730
bin: 9.25e1
variant carriers: 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: 66670
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.97e-1

MQ
type: SiteQuality
SIO_000300: 5.679e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.64e-1

QD
type: SiteQuality
SIO_000300: 1.151e1

FS
type: SiteQuality
SIO_000300: 3.667e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.59e-1

DP
type: SiteQuality
SIO_000300: 2.118635e6

VQSLOD
type: SiteQuality
SIO_000300: -2.605e-1

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31790
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7364
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8906
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 (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003814844852963e-5
allele num: 66582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.252e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 2.117387e6

FS
type: SiteQuality
SIO_000300: 5.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

GenotypeQuality
all individuals: 8904
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2730
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31658
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7355
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.02082482645978e-4
allele num: 9796
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.614e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

VQSLOD
type: SiteQuality
SIO_000300: 3.52e-1

QD
type: SiteQuality
SIO_000300: 1.11e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.71e-1

FS
type: SiteQuality
SIO_000300: 1.407e0

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

DP
type: SiteQuality
SIO_000300: 2.115977e6

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8903
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 7326
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1728
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.691117677733357e-5
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66412
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

FS
type: SiteQuality
SIO_000300: 1.167e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.228e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 2.112628e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.92e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

GenotypeQuality
all individuals: 2719
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8903
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7319
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3734
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31157
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1728
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508705229172324e-5
allele num: 66282
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.652e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 1.2872e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.137e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

DP
type: SiteQuality
SIO_000300: 2.10962e6

GenotypeQuality
all individuals: 312
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5350
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1638
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2437
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.29987400251995e-4
allele num: 9524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8158
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.94909e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

QD
type: SiteQuality
SIO_000300: 1.468e1

GenotypeQuality
all individuals: 1980
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1706
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2566
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1534
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66084
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.809529e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.02e-1

MQ
type: SiteQuality
SIO_000300: 5.712e1

QD
type: SiteQuality
SIO_000300: 2.098e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.016e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7995
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29950
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.77963125548727e-5
allele num: 11390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66190
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

DP
type: SiteQuality
SIO_000300: 1.844336e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7401
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31606
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2600
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7998
bin: 9.75e1
variant carriers: 5

African
type: Population
allele count: 2
allele frequency: 2.047082906857728e-4
allele num: 9770
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.827262760384943e-4
allele num: 16418
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66350
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.03e1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 1.861855e6

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.07e0

GenotypeQuality
all individuals: 31805
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2606
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506024096385542e-5
allele num: 66400
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.864236e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.073e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

FS
type: SiteQuality
SIO_000300: 1.219e0

QD
type: SiteQuality
SIO_000300: 1.136e1

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

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7437
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 24
allele frequency: 2.454489670689303e-3
allele num: 9778
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66420
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.955e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

QD
type: SiteQuality
SIO_000300: 1.231e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

FS
type: SiteQuality
SIO_000300: 2.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.658e0

DP
type: SiteQuality
SIO_000300: 1.867011e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.57e-1

GenotypeQuality
all individuals: 2728
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2615
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1724
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.635922918434129e-4
allele num: 16502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.074e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.567e0

DP
type: SiteQuality
SIO_000300: 1.877288e6

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

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7996
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1724
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2730
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.687e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: -8.61e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

FS
type: SiteQuality
SIO_000300: 1.409e1

VQSLOD
type: SiteQuality
SIO_000300: -1.945e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.877307e6

QD
type: SiteQuality
SIO_000300: 9.98e0

GenotypeQuality
all individuals: 7996
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7536
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.159999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 2.029e0

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 1.877476e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

QD
type: SiteQuality
SIO_000300: 1.329e1

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

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7996
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 124
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7538
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.688097306689835e-5
allele num: 11510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.295e0

FS
type: SiteQuality
SIO_000300: 1.1864e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.317e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

DP
type: SiteQuality
SIO_000300: 1.87741e6

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2725
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3625
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32727
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.877401e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

VQSLOD
type: SiteQuality
SIO_000300: -1.167e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 7.95e-1

QD
type: SiteQuality
SIO_000300: 1.089e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.328e0

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

MQ
type: SiteQuality
SIO_000300: 5.835e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-1

GenotypeQuality
all individuals: 7521
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7997
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32640
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2608
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3622
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.071e-1

MQ
type: SiteQuality
SIO_000300: 5.877e1

DP
type: SiteQuality
SIO_000300: 1.877099e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.487e0

MQRankSum
type: SiteQuality
SIO_000300: -3.88e-1

FS
type: SiteQuality
SIO_000300: 4.666e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.277e1

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

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1725
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7521
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2723
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 4.666e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.487e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: -7.071e-1

DP
type: SiteQuality
SIO_000300: 1.877099e6

MQRankSum
type: SiteQuality
SIO_000300: -3.88e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

MQ
type: SiteQuality
SIO_000300: 5.877e1

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32368
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3607
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2602
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1722
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.874505e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.797e0

VQSLOD
type: SiteQuality
SIO_000300: -1.392e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e0

QD
type: SiteQuality
SIO_000300: 1.884e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.41e-1

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

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

GenotypeQuality
all individuals: 8001
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3597
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.976744186046512e-4
allele num: 8600
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.732099196646873e-5
allele num: 11452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.835e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.873326e6

FS
type: SiteQuality
SIO_000300: 5.679999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.191e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3595
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2711
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31920
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.045408058907752e-4
allele num: 9778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.936e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 1.871212e6

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 8.33e0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8018
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 30597
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2677
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2590
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1716
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 30
allele frequency: 1.829714564527934e-3
allele num: 16396
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

FS
type: SiteQuality
SIO_000300: 3.738e0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

DP
type: SiteQuality
SIO_000300: 1.859316e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.43e-1

MQ
type: SiteQuality
SIO_000300: 5.177e1

MQRankSum
type: SiteQuality
SIO_000300: -4.403e0

QD
type: SiteQuality
SIO_000300: 6.24e0

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2671
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7270
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2592
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3571
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7989
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507977199384745e-5
allele num: 66314
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.855992e6

QD
type: SiteQuality
SIO_000300: 1.107e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 9.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

FS
type: SiteQuality
SIO_000300: 1.785e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

GenotypeQuality
all individuals: 751
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7994
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2593
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28334
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1711
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1188
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.74608448030375e-4
allele num: 8428
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.32e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

FS
type: SiteQuality
SIO_000300: 3.318e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.69e-1

DP
type: SiteQuality
SIO_000300: 1.841447e6

MQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.025e0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7988
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 275
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66058
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.915816640039326e-4
allele num: 16274
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQ
type: SiteQuality
SIO_000300: 5.915e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.43e-1

QD
type: SiteQuality
SIO_000300: 1.68e1

FS
type: SiteQuality
SIO_000300: 1.3774e1

VQSLOD
type: SiteQuality
SIO_000300: -1.631e0

DP
type: SiteQuality
SIO_000300: 1.836165e6

GenotypeQuality
all individuals: 795
bin: 2.75e1
variant carriers: 16

GenotypeQuality
all individuals: 914
bin: 9.25e1
variant carriers: 68

GenotypeQuality
all individuals: 354
bin: 5.75e1
variant carriers: 35

GenotypeQuality
all individuals: 2262
bin: 7.75e1
variant carriers: 71

GenotypeQuality
all individuals: 1732
bin: 7.25e1
variant carriers: 34

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 7

GenotypeQuality
all individuals: 694
bin: 8.75e1
variant carriers: 45

Latino
type: Population
allele count: 1075
allele frequency: 9.613664818458237e-2
allele num: 11182
num of homozygotes: 50

East Asian
type: Population
allele count: 31
allele frequency: 3.711685823754789e-3
allele num: 8352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 670
allele frequency: 1.027922675667383e-1
allele num: 6518
num of homozygotes: 43

Other
type: Population
allele count: 124
allele frequency: 1.409090909090909e-1
allele num: 880
num of homozygotes: 12

African
type: Population
allele count: 657
allele frequency: 6.811113414887e-2
allele num: 9646
num of homozygotes: 25

South Asian
type: Population
allele count: 2491
allele frequency: 1.528408393667935e-1
allele num: 16298
num of homozygotes: 224

European (Non-Finnish)
type: Population
allele count: 11274
allele frequency: 1.714937633100091e-1
allele num: 65740
num of homozygotes: 984

FS
type: SiteQuality
SIO_000300: 7.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.13e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

DP
type: SiteQuality
SIO_000300: 1.985069e6

QD
type: SiteQuality
SIO_000300: 1.64e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 30260
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1155
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2914
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11130
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.235788433020267e-4
allele num: 16184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65516
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8346
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.583e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e-1

DP
type: SiteQuality
SIO_000300: 1.763608e6

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: 8.699999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.483e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

GenotypeQuality
all individuals: 1141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20783
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2643
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54640769492469e-5
allele num: 64666
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.639542e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.58e-1

GenotypeQuality
all individuals: 16437
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2490
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 8.445945945945946e-4
allele num: 9472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8022
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.387e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.365e1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

FS
type: SiteQuality
SIO_000300: 9.14e-1

DP
type: SiteQuality
SIO_000300: 1.582068e6

GenotypeQuality
all individuals: 249
bin: 1.25e1
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
all individuals: 4851
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variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558895055184885e-5
allele num: 64148
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.387e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

QD
type: SiteQuality
SIO_000300: 1.365e1

FS
type: SiteQuality
SIO_000300: 9.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

DP
type: SiteQuality
SIO_000300: 1.582068e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7808
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.149613069647464e-4
allele num: 9304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62968
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e0

DP
type: SiteQuality
SIO_000300: 1.528433e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.893e-1

QD
type: SiteQuality
SIO_000300: 1.781e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 5.962e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
all individuals: 131
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10688
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5512
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4319
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.785802143735723e-5
allele num: 11382
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8254
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.08e-1

DP
type: SiteQuality
SIO_000300: 2.403473e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.803e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

QD
type: SiteQuality
SIO_000300: 1.006e1

GenotypeQuality
all individuals: 1054
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3797
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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
all individuals: 2046
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 5.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65412
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.137228427642077e-5
allele num: 16294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.21153380179307e-4
allele num: 8254
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.906e1

QD
type: SiteQuality
SIO_000300: 1.006e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.803e0

MQRankSum
type: SiteQuality
SIO_000300: 6.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.61e-1

DP
type: SiteQuality
SIO_000300: 2.403473e6

VQSLOD
type: SiteQuality
SIO_000300: 2.69e-1

GenotypeQuality
all individuals: 1342
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1801
bin: 4.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2921
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4367
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52597204419215e-5
allele num: 65532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.636363636363636e-4
allele num: 8250
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.505934173498104e-4
allele num: 16346
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.32e0

QD
type: SiteQuality
SIO_000300: 1.289e1

DP
type: SiteQuality
SIO_000300: 2.408826e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2815
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12332
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4386
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variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 3.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523507724184162e-5
allele num: 65638
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.72e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.410758e6

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.107e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

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
all individuals: 293
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variant carriers: 0

GenotypeQuality
all individuals: 2924
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 25
allele frequency: 2.570958453311394e-3
allele num: 9724
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

DP
type: SiteQuality
SIO_000300: 2.42164e6

MQRankSum
type: SiteQuality
SIO_000300: 3.09e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.648e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

FS
type: SiteQuality
SIO_000300: 2.439e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

QD
type: SiteQuality
SIO_000300: 1.995e1

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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2826
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.201923076923077e-4
allele num: 8320
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65750
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.077e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.426951e6

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.77e-2

FS
type: SiteQuality
SIO_000300: 3.009e0

VQSLOD
type: SiteQuality
SIO_000300: 8.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.159e0

QD
type: SiteQuality
SIO_000300: 1.303e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 888
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variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520912547528517e-5
allele num: 65750
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.77e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.426951e6

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

QD
type: SiteQuality
SIO_000300: 1.303e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 3.009e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.159e0

VQSLOD
type: SiteQuality
SIO_000300: 8.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.077e0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 117
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GenotypeQuality
all individuals: 254
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.046180090166931e-4
allele num: 16414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.57e-1

DP
type: SiteQuality
SIO_000300: 2.440269e6

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

QD
type: SiteQuality
SIO_000300: 1.483e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 103
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17187
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 2835
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2959
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2105
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

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

African
type: Population
allele count: 25
allele frequency: 2.568317238545305e-3
allele num: 9734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65852
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.16e-1

FS
type: SiteQuality
SIO_000300: 3.874e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.05e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

QD
type: SiteQuality
SIO_000300: 1.823e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

DP
type: SiteQuality
SIO_000300: 2.442394e6

GenotypeQuality
all individuals: 17186
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2847
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17161
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4460
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 3.079449804968179e-4
allele num: 9742
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65884
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

FS
type: SiteQuality
SIO_000300: 2.057e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.01e-1

QD
type: SiteQuality
SIO_000300: 1.371e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.566e0

MQ
type: SiteQuality
SIO_000300: 5.86e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.589e-1

DP
type: SiteQuality
SIO_000300: 2.44925e6

GenotypeQuality
all individuals: 17395
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2855
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6037
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17190
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516300227445034e-5
allele num: 65950
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.453126e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.499e0

VQSLOD
type: SiteQuality
SIO_000300: -1.908e0

QD
type: SiteQuality
SIO_000300: 1.419e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.91e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.372e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.45e-1

GenotypeQuality
all individuals: 3902
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4501
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2877
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17195
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2961
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.823043266893534e-4
allele num: 16456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66014
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.67e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

QD
type: SiteQuality
SIO_000300: 1.382e1

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.456702e6

GenotypeQuality
all individuals: 312
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2967
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4536
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2123
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6205
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66234
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.821051353648173e-4
allele num: 16474
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.471419e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.21e-1

QD
type: SiteQuality
SIO_000300: 1.455e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.615e0

VQSLOD
type: SiteQuality
SIO_000300: 3.91e-1

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3939
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17215
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50879628232596e-5
allele num: 66278
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.633e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.963e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e0

QD
type: SiteQuality
SIO_000300: 1.504e1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

DP
type: SiteQuality
SIO_000300: 2.473379e6

FS
type: SiteQuality
SIO_000300: 9.462e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6284
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2977
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4568
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505842669557885e-5
allele num: 66408
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
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: 8544
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: -1.015e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

QD
type: SiteQuality
SIO_000300: 1.298e1

FS
type: SiteQuality
SIO_000300: 1.0188e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

DP
type: SiteQuality
SIO_000300: 2.479663e6

GenotypeQuality
all individuals: 6284
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2977
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3944
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4568
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505842669557885e-5
allele num: 66408
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.0188e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

DP
type: SiteQuality
SIO_000300: 2.479663e6

QD
type: SiteQuality
SIO_000300: 1.298e1

VQSLOD
type: SiteQuality
SIO_000300: -1.015e0

GenotypeQuality
all individuals: 85
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17223
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 19531
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2935
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2980
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3956
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.002e0

DP
type: SiteQuality
SIO_000300: 2.483536e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

VQSLOD
type: SiteQuality
SIO_000300: 2.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.692e1

GenotypeQuality
all individuals: 17228
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6320
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2146
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3961
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.042066571370227e-4
allele num: 9794
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-2

QD
type: SiteQuality
SIO_000300: 1.347e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.96e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.591e0

DP
type: SiteQuality
SIO_000300: 2.485425e6

VQSLOD
type: SiteQuality
SIO_000300: -6.939e-1

MQ
type: SiteQuality
SIO_000300: 5.467e1

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

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6320
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3961
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2980
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 2
allele frequency: 2.042066571370227e-4
allele num: 9794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.591e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.96e0

VQSLOD
type: SiteQuality
SIO_000300: -6.939e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.485425e6

QD
type: SiteQuality
SIO_000300: 1.347e1

MQ
type: SiteQuality
SIO_000300: 5.467e1

GenotypeQuality
all individuals: 147
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4591
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17231
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2147
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6333
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002822653294096e-5
allele num: 66604
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 8.140000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.769e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.977e-1

FS
type: SiteQuality
SIO_000300: 4.645e0

MQRankSum
type: SiteQuality
SIO_000300: -5.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.19e-1

DP
type: SiteQuality
SIO_000300: 2.487551e6

GenotypeQuality
all individuals: 125
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3968
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 19816
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.265e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.63e-1

MQ
type: SiteQuality
SIO_000300: 5.858e1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.642e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.491e1

DP
type: SiteQuality
SIO_000300: 2.488074e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.93e-1

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2220
bin: 9.25e1
variant carriers: 23

GenotypeQuality
all individuals: 1514
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2190
bin: 7.25e1
variant carriers: 10

South Asian
type: Population
allele count: 1619
allele frequency: 9.80617807389461e-2
allele num: 16510
num of homozygotes: 99

Other
type: Population
allele count: 132
allele frequency: 1.469933184855234e-1
allele num: 898
num of homozygotes: 10

European (Finnish)
type: Population
allele count: 1050
allele frequency: 1.591391330706275e-1
allele num: 6598
num of homozygotes: 73

African
type: Population
allele count: 1688
allele frequency: 1.722800571545213e-1
allele num: 9798
num of homozygotes: 145

European (Non-Finnish)
type: Population
allele count: 8673
allele frequency: 1.30119722747322e-1
allele num: 66654
num of homozygotes: 600

Latino
type: Population
allele count: 951
allele frequency: 8.256641778086474e-2
allele num: 11518
num of homozygotes: 37

East Asian
type: Population
allele count: 889
allele frequency: 1.035165346995808e-1
allele num: 8588
num of homozygotes: 49

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

QD
type: SiteQuality
SIO_000300: 1.625e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.7e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

DP
type: SiteQuality
SIO_000300: 3.051013e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.75e-1

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6686
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2814
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16099
bin: 9.75e1
variant carriers: 22

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

GenotypeQuality
all individuals: 4495
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 20
allele frequency: 2.040399918384003e-3
allele num: 9802
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.537e0

VQSLOD
type: SiteQuality
SIO_000300: 4.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.72e-1

FS
type: SiteQuality
SIO_000300: 1.316e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 2.517485e6

QD
type: SiteQuality
SIO_000300: 1.296e1

GenotypeQuality
all individuals: 4487
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2811
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2892
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6693
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498155756139982e-5
allele num: 66694
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 5.51e-1

DP
type: SiteQuality
SIO_000300: 2.51738e6

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.07e0

VQSLOD
type: SiteQuality
SIO_000300: -1.217e-1

QD
type: SiteQuality
SIO_000300: 1.259e1

MQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.386e0

GenotypeQuality
all individuals: 1945
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2893
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3830
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6685
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2811
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16086
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.179e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

FS
type: SiteQuality
SIO_000300: 6.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 2.517608e6

VQSLOD
type: SiteQuality
SIO_000300: 5.94e-1

QD
type: SiteQuality
SIO_000300: 2.659e1