2-128775529-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128775529
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128775529
    reference: chr 2
allele count: 4
allele frequency: 3.696379396381245e-5
allele num: 108214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.113-40A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.113-40A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.191-40A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.191-40A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.113-40A>G
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16393
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6926
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5429
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8941
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-128775532-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128775532
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128775532
    reference: chr 2
allele count: 3
allele frequency: 2.805941112649183e-5
allele num: 106916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.191-43G>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.113-43G>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.113-43G>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.113-43G>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.191-43G>A
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7562
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18249
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 5463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 280
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1256
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7277
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 971
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 268
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9059
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-128775539-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128775539
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128775539
    reference: chr 2
allele count: 3
allele frequency: 2.901802986922541e-5
allele num: 103384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.113-50T>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.191-50T>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.113-50T>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.191-50T>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.113-50T>C
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9906
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17363
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 280
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1177
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-128783704-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783704
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783704
    reference: chr 2
allele count: 1
allele frequency: 8.801577242641881e-6
allele num: 113616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.112+51C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.112+51C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.112+51C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.190+51C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.190+51C>T
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16252
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

2-128783712-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783712
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783712
    reference: chr 2
allele count: 1
allele frequency: 8.780710535096499e-6
allele num: 113886
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.190+43A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.112+43A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.112+43A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.112+43A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.190+43A>G
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7134
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16264
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5279
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-128783717-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783717
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783717
    reference: chr 2
allele count: 1
allele frequency: 8.773469029654325e-6
allele num: 113980
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.112+38T>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.112+38T>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.112+38T>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.190+38T>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.190+38T>G
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5391
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16267
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

2-128783720-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783720
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783720
    reference: chr 2
allele count: 2
allele frequency: 1.751927119831815e-5
allele num: 114160
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.112+35A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.112+35A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.112+35A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.190+35A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.190+35A>G
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10107
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11752
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5474
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4133
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-128783728-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783728
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783728
    reference: chr 2
allele count: 1
allele frequency: 8.715508375603548e-6
allele num: 114738
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.112+27T>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.112+27T>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.112+27T>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.190+27T>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.190+27T>G
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10184
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5689
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16291
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/2-128783729-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783729
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783729
    reference: chr 2
allele count: 1
allele frequency: 8.704735376044569e-6
allele num: 114880
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.190+26T>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.112+26T>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.112+26T>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.190+26T>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.112+26T>G
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12158
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9332
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16289
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3351
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4443
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

2-128783731-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783731
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783731
    reference: chr 2
allele count: 1
allele frequency: 8.679500755116566e-6
allele num: 115214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.190+24T>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.190+24T>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.112+24T>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.112+24T>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.112+24T>C
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4454
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3354
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16291
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5810
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

2-128783733-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783733
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783733
    reference: chr 2
allele count: 3
allele frequency: 2.594302910807866e-5
allele num: 115638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.112+22T>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.190+22T>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.190+22T>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.112+22T>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.112+22T>C
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10575
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13090
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4478
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5890
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16292
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

2-128783740-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783740
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783740
    reference: chr 2
allele count: 1
allele frequency: 8.47860001356576e-6
allele num: 117944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.112+15A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.190+15A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.112+15A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.112+15A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.190+15A>G
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5085
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6253
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

2-128783742-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783742
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783742
    reference: chr 2
allele count: 31
allele frequency: 2.611889997303855e-4
allele num: 118688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.190+13A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.190+13A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.112+13A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.112+13A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.112+13A>G
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11119
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9535
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4570
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16320
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

2-128783758-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783758
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783759
    reference: chr 2
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.108dupT
  hgvsp: ENSP00000411634.1:p.Thr37TyrfsTer4
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.186dupT
  hgvsp: ENSP00000259235.3:p.Thr63TyrfsTer4
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.186dupT
  hgvsp: ENSP00000350333.5:p.Thr63TyrfsTer4
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.108dupT
  hgvsp: ENSP00000259234.6:p.Thr37TyrfsTer4
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.108dupT
  hgvsp: ENSP00000414593.1:p.Thr37TyrfsTer4
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr63TyrfsTer4
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

2-128783762-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783762
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783762
    reference: chr 2
allele count: 4
allele frequency: 3.302291790502609e-5
allele num: 121128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.105T>C
  hgvsp: ENST00000424298.1:c.105T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.105T>C
  hgvsp: ENST00000259234.6:c.105T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.183T>C
  hgvsp: ENST00000357702.5:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.183T>C
  hgvsp: ENST00000259235.3:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.105T>C
  hgvsp: ENST00000450957.1:c.105T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17061
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11495
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6568
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16323
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Ala61Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-128783767-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783767
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783767
    reference: chr 2
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.100C>G
  hgvsp: ENSP00000411634.1:p.Pro34Ala
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.178C>G
  hgvsp: ENSP00000259235.3:p.Pro60Ala
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.100C>G
  hgvsp: ENSP00000414593.1:p.Pro34Ala
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.100C>G
  hgvsp: ENSP00000259234.6:p.Pro34Ala
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.178C>G
  hgvsp: ENSP00000350333.5:p.Pro60Ala
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11523
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20018
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro60Ala
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

2-128783777-TCCAGCAGAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783777
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783768
    reference: chr 2
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.159_167delTTCTGCTGG
  hgvsp: ENSP00000259235.3:p.Ser54_Gly56del
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.159_167delTTCTGCTGG
  hgvsp: ENSP00000350333.5:p.Ser54_Gly56del
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.81_89delTTCTGCTGG
  hgvsp: ENSP00000414593.1:p.Ser28_Gly30del
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.81_89delTTCTGCTGG
  hgvsp: ENSP00000411634.1:p.Ser28_Gly30del
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.81_89delTTCTGCTGG
  hgvsp: ENSP00000259234.6:p.Ser28_Gly30del
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4350
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser54_Gly56del
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: TCCAGCAGAA
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-128783782-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783782
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783782
    reference: chr 2
allele count: 3
allele frequency: 2.472676920033628e-5
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.85G>T
  hgvsp: ENSP00000411634.1:p.Ala29Ser
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.85G>T
  hgvsp: ENSP00000414593.1:p.Ala29Ser
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.85G>T
  hgvsp: ENSP00000259234.6:p.Ala29Ser
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.163G>T
  hgvsp: ENSP00000259235.3:p.Ala55Ser
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.163G>T
  hgvsp: ENSP00000350333.5:p.Ala55Ser
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20070
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16326
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala55Ser
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-128783788-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783788
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783788
    reference: chr 2
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.79G>A
  hgvsp: ENSP00000411634.1:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.157G>A
  hgvsp: ENSP00000259235.3:p.Gly53Ser
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.79G>A
  hgvsp: ENSP00000414593.1:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.157G>A
  hgvsp: ENSP00000350333.5:p.Gly53Ser
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.79G>A
  hgvsp: ENSP00000259234.6:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 20091
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genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6584
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 16323
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4350
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly53Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-128783797-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783797
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783797
    reference: chr 2
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.148G>A
  hgvsp: ENSP00000259235.3:p.Ala50Thr
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.70G>A
  hgvsp: ENSP00000414593.1:p.Ala24Thr
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.70G>A
  hgvsp: ENSP00000259234.6:p.Ala24Thr
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.148G>A
  hgvsp: ENSP00000350333.5:p.Ala50Thr
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.70G>A
  hgvsp: ENSP00000411634.1:p.Ala24Thr
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3119
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4663
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genotype quality: GenotypeQuality
  all individuals: 16323
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4350
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala50Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

2-128783803-GAGAAGGGGCCTGGCTCAGCCCGGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783803
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783779
    reference: chr 2
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsp: ENSP00000411634.1:p.Thr14_Ser21del
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsp: ENSP00000259234.6:p.Thr14_Ser21del
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsp: ENSP00000259235.3:p.Thr40_Ser47del
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsp: ENSP00000414593.1:p.Thr14_Ser21del
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsp: ENSP00000350333.5:p.Thr40_Ser47del
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr40_Ser47del
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: GAGAAGGGGCCTGGCTCAGCCCGGT
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

2-128783805-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783805
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783805
    reference: chr 2
allele count: 34
allele frequency: 2.80121276034801e-4
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.62C>G
  hgvsp: ENSP00000411634.1:p.Ser21Cys
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.62C>G
  hgvsp: ENSP00000259234.6:p.Ser21Cys
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.140C>G
  hgvsp: ENSP00000259235.3:p.Ser47Cys
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.140C>G
  hgvsp: ENSP00000350333.5:p.Ser47Cys
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.62C>G
  hgvsp: ENSP00000414593.1:p.Ser21Cys
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5098
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4661
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16346
  bin: 9.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20084
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser47Cys
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

2-128783810-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783810
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783810
    reference: chr 2
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.57C>T
  hgvsp: ENST00000424298.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.135C>T
  hgvsp: ENST00000357702.5:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.57C>T
  hgvsp: ENST00000450957.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.135C>T
  hgvsp: ENST00000259235.3:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.57C>T
  hgvsp: ENST00000259234.6:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16329
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala45Ala
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

2-128783820-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783820
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783820
    reference: chr 2
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.47T>C
  hgvsp: ENSP00000259234.6:p.Leu16Pro
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.47T>C
  hgvsp: ENSP00000414593.1:p.Leu16Pro
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.47T>C
  hgvsp: ENSP00000411634.1:p.Leu16Pro
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.125T>C
  hgvsp: ENSP00000259235.3:p.Leu42Pro
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.125T>C
  hgvsp: ENSP00000350333.5:p.Leu42Pro
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6583
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4357
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu42Pro
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

2-128783825-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783825
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783825
    reference: chr 2
allele count: 5
allele frequency: 4.119294776734223e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.120C>T
  hgvsp: ENST00000357702.5:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.42C>T
  hgvsp: ENST00000450957.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.120C>T
  hgvsp: ENST00000259235.3:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.42C>T
  hgvsp: ENST00000424298.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.42C>T
  hgvsp: ENST00000259234.6:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20086
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16333
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Thr40Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-128783827-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783827
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783827
    reference: chr 2
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.118A>G
  hgvsp: ENSP00000350333.5:p.Thr40Ala
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.40A>G
  hgvsp: ENSP00000411634.1:p.Thr14Ala
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.40A>G
  hgvsp: ENSP00000414593.1:p.Thr14Ala
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.118A>G
  hgvsp: ENSP00000259235.3:p.Thr40Ala
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.40A>G
  hgvsp: ENSP00000259234.6:p.Thr14Ala
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20093
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4664
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr40Ala
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

2-128783828-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783828
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783828
    reference: chr 2
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.117T>C
  hgvsp: ENST00000259235.3:c.117T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.117T>C
  hgvsp: ENST00000357702.5:c.117T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.39T>C
  hgvsp: ENST00000424298.1:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.39T>C
  hgvsp: ENST00000259234.6:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.39T>C
  hgvsp: ENST00000450957.1:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20093
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser39Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

2-128783835-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783835
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783835
    reference: chr 2
allele count: 3
allele frequency: 2.471454698235381e-5
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.110C>G
  hgvsp: ENSP00000350333.5:p.Ala37Gly
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.32C>G
  hgvsp: ENSP00000411634.1:p.Ala11Gly
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.32C>G
  hgvsp: ENSP00000259234.6:p.Ala11Gly
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.32C>G
  hgvsp: ENSP00000414593.1:p.Ala11Gly
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.110C>G
  hgvsp: ENSP00000259235.3:p.Ala37Gly
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11618
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6583
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16336
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala37Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-128783844-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783844
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783844
    reference: chr 2
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.101G>T
  hgvsp: ENSP00000259235.3:p.Arg34Leu
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.23G>T
  hgvsp: ENSP00000411634.1:p.Arg8Leu
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.23G>T
  hgvsp: ENSP00000259234.6:p.Arg8Leu
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.23G>T
  hgvsp: ENSP00000414593.1:p.Arg8Leu
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.101G>T
  hgvsp: ENSP00000350333.5:p.Arg34Leu
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6584
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20086
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16332
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg34Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

2-128783855-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783855
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783855
    reference: chr 2
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.12A>G
  hgvsp: ENST00000259234.6:c.12A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.12A>G
  hgvsp: ENST00000424298.1:c.12A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.90A>G
  hgvsp: ENST00000259235.3:c.90A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.90A>G
  hgvsp: ENST00000357702.5:c.90A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.12A>G
  hgvsp: ENST00000450957.1:c.12A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 6585
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 16332
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 4666
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genotype quality: GenotypeQuality
  all individuals: 20083
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln30Gln
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-128783876-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783876
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783876
    reference: chr 2
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-4A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-6-4A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.73-4A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-4A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.73-4A>G
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11614
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 51
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genotype depth: GenotypeDepth
  all individuals: 204
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16962
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genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 513
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16333
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 4663
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6576
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20007
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: c.73-4A>G
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

2-128783882-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783882
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783882
    reference: chr 2
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-6-10T>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-10T>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.73-10T>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.73-10T>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-10T>C
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16333
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19925
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4355
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-128783883-TAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783883
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783881
    reference: chr 2
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.73-13_73-12delGT
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-13_-6-12delGT
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.73-13_73-12delGT
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-6-13_-6-12delGT
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-13_-6-12delGT
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19940
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: TAC
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-128783886-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783886
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783886
    reference: chr 2
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-14T>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-14T>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-6-14T>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.73-14T>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.73-14T>C
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6568
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16332
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4664
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

2-128783887-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783887
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783886
    reference: chr 2
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.73-16delA
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-16delA
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-16delA
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.73-16delA
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-6-16delA
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19810
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16333
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: GT
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

2-128783889-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783889
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783890
    reference: chr 2
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: TA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.73-18dupT
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-6-18dupT
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-18dupT
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.73-18dupT
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-18dupT
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4664
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

2-128783895-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783895
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783895
    reference: chr 2
allele count: 23
allele frequency: 1.895750222544591e-4
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-23C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.73-23C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-6-23C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.73-23C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-23C>T
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11557
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16347
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4352
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4660
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

2-128783898-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783898
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783898
    reference: chr 2
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.73-26T>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-26T>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-26T>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.73-26T>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-6-26T>A
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7245
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4661
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4352
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

2-128783900-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783900
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783900
    reference: chr 2
allele count: 3
allele frequency: 2.472717681579902e-5
allele num: 121324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-28A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.73-28A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-28A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.73-28A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-6-28A>G
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16337
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4352
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4660
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 3398
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genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/2-128783901-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783901
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783901
    reference: chr 2
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-6-29T>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.73-29T>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.73-29T>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-29T>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-29T>G
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16336
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19473
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4658
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-128783902-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783902
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783902
    reference: chr 2
allele count: 4
allele frequency: 3.296902560044838e-5
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-6-30G>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-30G>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-30G>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.73-30G>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.73-30G>C
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7250
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4659
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6529
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 3106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16338
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

2-128783921-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128783921
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128783921
    reference: chr 2
allele count: 2
allele frequency: 1.648913366091746e-5
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-49A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.73-49A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-49A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-6-49A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.73-49A>G
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5098
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9591
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16334
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 17263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-128784615-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784615
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784615
    reference: chr 2
allele count: 1
allele frequency: 1.177551164598102e-5
allele num: 84922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.72+51C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-743C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+217C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.72+51C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-743C>T
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
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genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20849
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1182
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-128784618-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784618
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784618
    reference: chr 2
allele count: 1
allele frequency: 1.183151916706105e-5
allele num: 84520
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-746G>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+214G>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.72+48G>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-746G>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.72+48G>T
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13543
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13970
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
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genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18051
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3400
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21745
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

2-128784621-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784621
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784621
    reference: chr 2
allele count: 1
allele frequency: 1.187902401938657e-5
allele num: 84182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+211C>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-749C>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-749C>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.72+45C>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.72+45C>A
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22729
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/2-128784622-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784622
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784622
    reference: chr 2
allele count: 1
allele frequency: 1.193317422434368e-5
allele num: 83800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-750G>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.72+44G>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.72+44G>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+210G>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-750G>T
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-128784622-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784622
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784622
    reference: chr 2
allele count: 1
allele frequency: 1.193317422434368e-5
allele num: 83800
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-750G>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-750G>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+210G>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.72+44G>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.72+44G>C
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13331
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14212
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-128784622-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784622
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784622
    reference: chr 2
allele count: 1
allele frequency: 1.193317422434368e-5
allele num: 83800
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+210G>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.72+44G>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-750G>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.72+44G>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-750G>A
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15323
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22964
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

2-128784623-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784623
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784623
    reference: chr 2
allele count: 1
allele frequency: 1.192179303767287e-5
allele num: 83880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-751C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-751C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+209C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.72+43C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.72+43C>T
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7283
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15420
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 396
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 18338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

2-128784631-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784631
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784631
    reference: chr 2
allele count: 6
allele frequency: 7.261109497531223e-5
allele num: 82632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.72+35C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+201C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-759C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-759C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.72+35C>T
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17049
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26099
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
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genotype quality: GenotypeQuality
  all individuals: 3861
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genotype quality: GenotypeQuality
  all individuals: 33
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genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-128784633-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784633
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784633
    reference: chr 2
allele count: 1
allele frequency: 1.216337850001216e-5
allele num: 82214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-761G>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.72+33G>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.72+33G>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+199G>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-761G>T
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11612
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15015
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 431
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-128784635-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784635
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784635
    reference: chr 2
allele count: 2
allele frequency: 2.449719507116435e-5
allele num: 81642
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-763G>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.72+31G>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+197G>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-763G>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.72+31G>C
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 25
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4072
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-128784636-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784636
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784636
    reference: chr 2
allele count: 1
allele frequency: 1.230708642036084e-5
allele num: 81254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.72+30C>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.72+30C>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-764C>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+196C>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-764C>A
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10521
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28013
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

2-128784646-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784646
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784646
    reference: chr 2
allele count: 1
allele frequency: 1.264382349222405e-5
allele num: 79090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-774G>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-774G>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.72+20G>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.72+20G>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+186G>A
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4999
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3040
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

2-128784647-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784647
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784647
    reference: chr 2
allele count: 30
allele frequency: 3.812428516965307e-4
allele num: 78690
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.72+19C>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-775C>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.72+19C>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-775C>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+185C>G
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7488
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15867
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20346
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 43
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 31893
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 692
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

2-128784653-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784653
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784653
    reference: chr 2
allele count: 27
allele frequency: 3.575306549431923e-4
allele num: 75518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.72+13A>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-781A>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-781A>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+179A>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.72+13A>T
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21344
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6548
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.75e1
  variant carriers: 25
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-128784661-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784661
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784661
    reference: chr 2
allele count: 1
allele frequency: 1.470328765511968e-5
allele num: 68012
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.72+5A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.72+5A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-789A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+171A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-789A>G
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
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genotype quality: GenotypeQuality
  all individuals: 34590
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 714
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 854
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9921
  bin: 7.5e0
  variant carriers: 0
hgvs: c.72+5A>G
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-128784667-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784667
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784667
    reference: chr 2
allele count: 1
allele frequency: 1.919533169533169e-5
allele num: 52096
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-795A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.71A>G
  hgvsp: ENSP00000350333.5:p.Gln24Arg
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+165A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.71A>G
  hgvsp: ENSP00000259235.3:p.Gln24Arg
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-795A>G
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12528
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1460
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2861
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
hgvs: p.Gln24Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-128784667-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784667
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784667
    reference: chr 2
allele count: 1
allele frequency: 1.919533169533169e-5
allele num: 52096
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.71A>C
  hgvsp: ENSP00000259235.3:p.Gln24Pro
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+165A>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-795A>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-795A>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.71A>C
  hgvsp: ENSP00000350333.5:p.Gln24Pro
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12528
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln24Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

2-128784669-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784669
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784669
    reference: chr 2
allele count: 2
allele frequency: 4.12660421738951e-5
allele num: 48466
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-797A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+163A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.69A>G
  hgvsp: ENST00000259235.3:c.69A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.69A>G
  hgvsp: ENST00000357702.5:c.69A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-797A>G
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16531
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 980
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 873
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu23Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-128784674-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784674
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784674
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 26092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.64C>A
  hgvsp: ENST00000259235.3:c.64C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-802C>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.64C>A
  hgvsp: ENST00000357702.5:c.64C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+158C>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-802C>A
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20152
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5004
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18744
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg22Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

2-128784677-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784677
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784677
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 26452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.61C>A
  hgvsp: ENST00000259235.3:c.61C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-805C>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-805C>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.61C>A
  hgvsp: ENST00000357702.5:c.61C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+155C>A
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10029
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20874
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20884
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3747
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21845
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg21Arg
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-128784681-GCCGCCCGCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784681
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784672
    reference: chr 2
allele count: 1
allele frequency: 3.849411040110863e-5
allele num: 25978
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.48_56delTGCGGGCGG
  hgvsp: ENSP00000259235.3:p.Ala17_Gly19del
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.48_56delTGCGGGCGG
  hgvsp: ENSP00000350333.5:p.Ala17_Gly19del
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23357
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21539
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala17_Gly19del
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: GCCGCCCGCA
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-128784682-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784682
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784682
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 18274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+150G>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-810G>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-810G>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.56G>T
  hgvsp: ENSP00000259235.3:p.Gly19Val
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.56G>T
  hgvsp: ENSP00000350333.5:p.Gly19Val
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20245
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24898
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly19Val
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

2-128784683-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784683
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784683
    reference: chr 2
allele count: 9
allele frequency: 4.893964110929853e-4
allele num: 18390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-811G>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+149G>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.55G>C
  hgvsp: ENSP00000350333.5:p.Gly19Arg
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.55G>C
  hgvsp: ENSP00000259235.3:p.Gly19Arg
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-811G>C
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6593
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20406
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24946
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5137
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly19Arg
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

2-128784692-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784692
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784692
    reference: chr 2
allele count: 4
allele frequency: 2.362390739428301e-4
allele num: 16932
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.46G>C
  hgvsp: ENSP00000350333.5:p.Gly16Arg
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-6-820G>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+140G>C
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.46G>C
  hgvsp: ENSP00000259235.3:p.Gly16Arg
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-6-820G>C
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26935
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20296
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2391
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
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genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 159
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly16Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

2-128784697-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784697
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784697
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 15330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-7+817C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-7+817C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.41C>T
  hgvsp: ENSP00000350333.5:p.Ala14Val
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.41C>T
  hgvsp: ENSP00000259235.3:p.Ala14Val
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+135C>T
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28816
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 89
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 219
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
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genotype quality: GenotypeQuality
  all individuals: 575
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala14Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-128784704-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784704
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784704
    reference: chr 2
allele count: 1
allele frequency: 7.394262052647145e-5
allele num: 13524
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+128A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.34A>G
  hgvsp: ENSP00000259235.3:p.Ile12Val
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-7+810A>G
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.34A>G
  hgvsp: ENSP00000350333.5:p.Ile12Val
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-7+810A>G
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31134
  bin: 2.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 70
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1253
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 15304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile12Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

2-128784707-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784707
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784707
    reference: chr 2
allele count: 1
allele frequency: 7.885191610156126e-5
allele num: 12682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-7+807G>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+125G>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.31G>A
  hgvsp: ENSP00000259235.3:p.Glu11Lys
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.31G>A
  hgvsp: ENSP00000350333.5:p.Glu11Lys
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-7+807G>A
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31800
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14645
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu11Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

2-128784719-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784719
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784719
    reference: chr 2
allele count: 10
allele frequency: 1.034554107179805e-3
allele num: 9666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+113C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.19C>T
  hgvsp: ENSP00000350333.5:p.Pro7Ser
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-7+795C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-7+795C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.19C>T
  hgvsp: ENSP00000259235.3:p.Pro7Ser
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33965
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 576
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11144
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 255
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10925
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 744
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 777
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genotype quality: GenotypeQuality
  all individuals: 875
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 519
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genotype quality: GenotypeQuality
  all individuals: 34943
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genotype quality: GenotypeQuality
  all individuals: 13
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genotype quality: GenotypeQuality
  all individuals: 104
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 6.75e1
  variant carriers: 1
hgvs: p.Pro7Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

2-128784747-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784747
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784747
    reference: chr 2
allele count: 1
allele frequency: 6.226650062266501e-4
allele num: 1606
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-7+767C>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-7+767C>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+85C>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.-10C>A
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.-10C>A
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25891
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 275
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

2-128784768-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128784768
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128784768
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 128
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000350333
  ensembl transcript: ENST00000357702
  gene symbol: SAP130
  hgvsc: ENST00000357702.5:c.-31C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000414593
  ensembl transcript: ENST00000450957
  gene symbol: SAP130
  hgvsc: ENST00000450957.1:c.-7+746C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259235
  ensembl transcript: ENST00000259235
  gene symbol: SAP130
  hgvsc: ENST00000259235.3:c.-31C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000411634
  ensembl transcript: ENST00000424298
  gene symbol: SAP130
  hgvsc: ENST00000424298.1:c.-7+64C>T
  variant of: http://identifiers.org/hgnc/29813
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136715
  ensembl protein: ENSP00000259234
  ensembl transcript: ENST00000259234
  gene symbol: SAP130
  hgvsc: ENST00000259234.6:c.-7+746C>T
  variant of: http://identifiers.org/hgnc/29813
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8252
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 8587
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

2-128848884-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128848884
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128848884
    reference: chr 2
allele count: 199
allele frequency: 1.337185862115307e-2
allele num: 14882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000136731
  ensembl protein: ENSP00000392701
  ensembl transcript: ENST00000438277
  gene symbol: UGGT1
  hgvsc: ENST00000438277.1:c.-48G>A
  variant of: http://identifiers.org/hgnc/15663
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000136731
  ensembl protein: ENSP00000365913
  ensembl transcript: ENST00000376723
  gene symbol: UGGT1
  hgvsc: ENST00000376723.3:c.-48G>A
  variant of: http://identifiers.org/hgnc/15663
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000136731
  ensembl protein: ENSP00000365158
  ensembl transcript: ENST00000375990
  gene symbol: UGGT1
  hgvsc: ENST00000375990.3:c.-301G>A
  variant of: http://identifiers.org/hgnc/15663
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000136731
  ensembl protein: ENSP00000400426
  ensembl transcript: ENST00000430075
  gene symbol: UGGT1
  hgvsc: ENST00000430075.1:c.-48G>A
  variant of: http://identifiers.org/hgnc/15663
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 1.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7720
  bin: 7.5e0
  variant carriers: 206
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36801
  bin: 2.5e0
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 1.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 2.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25215
  bin: 7.5e0
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 2.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 4592
  bin: 1.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3193
  bin: 1.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 9.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 6.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 8495
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 6.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 2.75e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.25e1
  variant carriers: 16
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ

2-128848906-TGTGGCG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128848906
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128848900
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 16400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000136731
  ensembl protein: ENSP00000365158
  ensembl transcript: ENST00000375990
  gene symbol: UGGT1
  hgvsc: ENST00000375990.3:c.-277_-272delTGGCGG
  variant of: http://identifiers.org/hgnc/15663
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000136731
  ensembl protein: ENSP00000259253
  ensembl transcript: ENST00000259253
  gene symbol: UGGT1
  hgvsc: ENST00000259253.6:c.-24_-19delTGGCGG
  variant of: http://identifiers.org/hgnc/15663
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000136731
  ensembl protein: ENSP00000392701
  ensembl transcript: ENST00000438277
  gene symbol: UGGT1
  hgvsc: ENST00000438277.1:c.-24_-19delTGGCGG
  variant of: http://identifiers.org/hgnc/15663
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000136731
  ensembl protein: ENSP00000365913
  ensembl transcript: ENST00000376723
  gene symbol: UGGT1
  hgvsc: ENST00000376723.3:c.-24_-19delTGGCGG
  variant of: http://identifiers.org/hgnc/15663
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000136731
  ensembl protein: ENSP00000400426
  ensembl transcript: ENST00000430075
  gene symbol: UGGT1
  hgvsc: ENST00000430075.1:c.-24_-19delTGGCGG
  variant of: http://identifiers.org/hgnc/15663
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12632
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34643
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: TGTGGCG

GenotypeQuality
all individuals: 13288
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2269
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2419
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1183
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 281
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 4.128819157720892e-4
allele num: 9688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60174
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13128
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

FS
type: SiteQuality
SIO_000300: 1.443e0

DP
type: SiteQuality
SIO_000300: 1.089761e6

MQRankSum
type: SiteQuality
SIO_000300: -1.12e0

QD
type: SiteQuality
SIO_000300: 1.42e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

GenotypeQuality
all individuals: 603
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12940
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.043881771411278e-5
allele num: 59478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7628
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.45e-2

DP
type: SiteQuality
SIO_000300: 1.075425e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.034e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

GenotypeQuality
all individuals: 201
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9221
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3233
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3334
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10378
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.209237714881056e-5
allele num: 57590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7422
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.08e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

DP
type: SiteQuality
SIO_000300: 1.052487e6

QD
type: SiteQuality
SIO_000300: 1.512e1

GenotypeQuality
all individuals: 1174
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1208
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2089
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2749
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15940
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8988
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.618280091918309e-5
allele num: 61794
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.5e0

DP
type: SiteQuality
SIO_000300: 1.917712e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.52e-1

FS
type: SiteQuality
SIO_000300: 7.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 405
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2790
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4072
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.776549060909251e-5
allele num: 11394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15984
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.52e-1

QD
type: SiteQuality
SIO_000300: 1.176e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.02e-1

FS
type: SiteQuality
SIO_000300: 3.095e0

MQRankSum
type: SiteQuality
SIO_000300: 5.22e-1

DP
type: SiteQuality
SIO_000300: 1.928452e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.71e0

GenotypeQuality
all individuals: 1014
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2811
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10785
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4096
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.612435099487246e-5
allele num: 62018
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9016
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15988
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.18e-1

DP
type: SiteQuality
SIO_000300: 1.941394e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.19e-1

QD
type: SiteQuality
SIO_000300: 1.197e1

GenotypeQuality
all individuals: 16274
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1787
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4342
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2840
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.210433244916003e-4
allele num: 9048
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16002
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.521e1

MQRankSum
type: SiteQuality
SIO_000300: -3.39e-1

FS
type: SiteQuality
SIO_000300: 2.257e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.15e-1

DP
type: SiteQuality
SIO_000300: 1.952376e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e-1

GenotypeQuality
all individuals: 311
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13509
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3350
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4436
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16068
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.204238921001927e-4
allele num: 8304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9112
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.978172e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.73e-1

FS
type: SiteQuality
SIO_000300: 5.421e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.081e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

QD
type: SiteQuality
SIO_000300: 2.225e1

GenotypeQuality
all individuals: 286
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2917
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14018
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5735
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16074
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.863e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.445e0

VQSLOD
type: SiteQuality
SIO_000300: -1.057e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

DP
type: SiteQuality
SIO_000300: 1.981551e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

QD
type: SiteQuality
SIO_000300: 1.325e1

MQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14615
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2931
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2954
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2078
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.593016216905088e-5
allele num: 62774
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.09e0

VQSLOD
type: SiteQuality
SIO_000300: -2.305e0

MQ
type: SiteQuality
SIO_000300: 5.869e1

QD
type: SiteQuality
SIO_000300: 1.661e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 1.989031e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.31e-1

GenotypeQuality
all individuals: 15520
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 531
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variant carriers: 0

GenotypeQuality
all individuals: 2949
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.194457716196847e-4
allele num: 8372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63020
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.080146899978397e-4
allele num: 9258
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.192717364379489e-5
allele num: 16148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.835e1

DP
type: SiteQuality
SIO_000300: 1.997836e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

FS
type: SiteQuality
SIO_000300: 9.455e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.121e0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16305
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4555
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3017
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variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
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: 11498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550676094777323e-5
allele num: 64488
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.669999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.365e1

FS
type: SiteQuality
SIO_000300: 1.298e0

DP
type: SiteQuality
SIO_000300: 2.033759e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 112
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6324
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3037
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4293
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2101
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.154101790879439e-4
allele num: 64996
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.029654036243822e-4
allele num: 9712
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.219363492257042e-4
allele num: 16402
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

DP
type: SiteQuality
SIO_000300: 2.043289e6

VQSLOD
type: SiteQuality
SIO_000300: 6.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.58e-2

QD
type: SiteQuality
SIO_000300: 1.601e1

GenotypeQuality
all individuals: 4347
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16315
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 6555
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GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503307276007216e-5
allele num: 66520
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.859e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.288e0

QD
type: SiteQuality
SIO_000300: 1.043e1

FS
type: SiteQuality
SIO_000300: 7.239e0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 2.068217e6

MQRankSum
type: SiteQuality
SIO_000300: -1.627e0

GenotypeQuality
all individuals: 19967
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3395
bin: 9.25e1
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GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2126
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variant carriers: 0

GenotypeQuality
all individuals: 4351
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variant carriers: 0

GenotypeQuality
all individuals: 4655
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.911490683229814e-4
allele num: 10304
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.341e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

QD
type: SiteQuality
SIO_000300: 1.088e1

DP
type: SiteQuality
SIO_000300: 2.069538e6

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

GenotypeQuality
all individuals: 16324
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3396
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.070641e6

FS
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.487e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 6583
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 56
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GenotypeQuality
all individuals: 16323
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

VQSLOD
type: SiteQuality
SIO_000300: 2.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.705e0

QD
type: SiteQuality
SIO_000300: 4.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.811e0

MQ
type: SiteQuality
SIO_000300: 5.222e1

DP
type: SiteQuality
SIO_000300: 2.071464e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4349
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GenotypeQuality
all individuals: 46
bin: 2.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.892960462873674e-4
allele num: 10370
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.934e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.08e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 2.072e6

QD
type: SiteQuality
SIO_000300: 1.278e1

MQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

GenotypeQuality
all individuals: 4663
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3118
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.49e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.28e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 8.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

DP
type: SiteQuality
SIO_000300: 2.072236e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e-1

GenotypeQuality
all individuals: 25
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 20098
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.771e0

MQ
type: SiteQuality
SIO_000300: 5.769e1

DP
type: SiteQuality
SIO_000300: 2.072332e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.54e-1

FS
type: SiteQuality
SIO_000300: 3.838e0

VQSLOD
type: SiteQuality
SIO_000300: -2.229e0

QD
type: SiteQuality
SIO_000300: 7.93e0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16324
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3119
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4351
bin: 8.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e-1

FS
type: SiteQuality
SIO_000300: 2.137e0

VQSLOD
type: SiteQuality
SIO_000300: -6.692e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQRankSum
type: SiteQuality
SIO_000300: -5.002e0

DP
type: SiteQuality
SIO_000300: 2.072406e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.462e1

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

GenotypeQuality
all individuals: 6582
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 34
allele frequency: 3.273637589062199e-3
allele num: 10386
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.417e0

QD
type: SiteQuality
SIO_000300: 1.39e1

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.76e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 2.074743e6

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
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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: 6586
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variant carriers: 0

GenotypeQuality
all individuals: 20096
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

FS
type: SiteQuality
SIO_000300: 1.363e0

VQSLOD
type: SiteQuality
SIO_000300: -2.63e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.51e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

DP
type: SiteQuality
SIO_000300: 2.07295e6

MQRankSum
type: SiteQuality
SIO_000300: 1.88e0

GenotypeQuality
all individuals: 16329
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20097
bin: 6.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.487e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.92e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.046e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 2.073101e6

GenotypeQuality
all individuals: 4663
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3117
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4356
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6583
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.887947631882942e-4
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.46e-2

FS
type: SiteQuality
SIO_000300: 5.24e-1

DP
type: SiteQuality
SIO_000300: 2.073316e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.72e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

GenotypeQuality
all individuals: 16330
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 4357
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variant carriers: 0

GenotypeQuality
all individuals: 6583
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.85e0

MQRankSum
type: SiteQuality
SIO_000300: -2.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e-1

DP
type: SiteQuality
SIO_000300: 2.073133e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.68e-2

FS
type: SiteQuality
SIO_000300: 6.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.49e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 16332
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
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: 11576
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.09e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e-1

FS
type: SiteQuality
SIO_000300: 4.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 2.073305e6

QD
type: SiteQuality
SIO_000300: 1.247e1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4355
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variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495729057395475e-5
allele num: 66730
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -9.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.24e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.691e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.84e-1

QD
type: SiteQuality
SIO_000300: 9.9e0

DP
type: SiteQuality
SIO_000300: 2.073336e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3397
bin: 9.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.576e0

MQ
type: SiteQuality
SIO_000300: 5.873e1

MQRankSum
type: SiteQuality
SIO_000300: -2.017e0

QD
type: SiteQuality
SIO_000300: 1.107e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.759e0

DP
type: SiteQuality
SIO_000300: 2.073342e6

VQSLOD
type: SiteQuality
SIO_000300: -3.552e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3118
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3397
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.462e1

FS
type: SiteQuality
SIO_000300: 6.302e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.56e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.073297e6

MQRankSum
type: SiteQuality
SIO_000300: -1.306e0

MQ
type: SiteQuality
SIO_000300: 5.918e1

VQSLOD
type: SiteQuality
SIO_000300: -1.73e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.32e-1

GenotypeQuality
all individuals: 2130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

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

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-2

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.072479e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.0927e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e0

VQSLOD
type: SiteQuality
SIO_000300: -1.031e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 2.071994e6

QD
type: SiteQuality
SIO_000300: 1.437e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

FS
type: SiteQuality
SIO_000300: 1.4258e1

DP
type: SiteQuality
SIO_000300: 2.07196e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.788e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.608e0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.884e1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.07183e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

FS
type: SiteQuality
SIO_000300: 8.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.609e-1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.504e1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.081e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.558e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

DP
type: SiteQuality
SIO_000300: 2.07147e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.991e1

BaseQRankSum
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MQRankSum
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 2
allele frequency: 1.928640308582449e-4
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
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allele count: 21
allele frequency: 3.148236987287119e-4
allele num: 66704
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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DP
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ReadPosRankSum
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ClippingRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.55e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

East Asian
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allele frequency: 0.0e0
allele num: 8650
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African
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allele count: 0
allele frequency: 0.0e0
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Other
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South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

Latino
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.941e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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QD
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.499160470136723e-5
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QD
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

East Asian
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allele frequency: 2.311604253351826e-4
allele num: 8652
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South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.99e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.314e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e0

DP
type: SiteQuality
SIO_000300: 2.069386e6

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6363
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4350
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998500749625187e-5
allele num: 66700
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.72e-1

FS
type: SiteQuality
SIO_000300: 1.072e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.54e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.83e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.24e-1

QD
type: SiteQuality
SIO_000300: 1.014e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 2.063908e6

GenotypeQuality
all individuals: 17353
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7076
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.564455569461827e-4
allele num: 6392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9040
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.923e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.013e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

DP
type: SiteQuality
SIO_000300: 9.5008e5

QD
type: SiteQuality
SIO_000300: 2.058e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7074
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.074774886924769e-5
allele num: 48198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9628
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

FS
type: SiteQuality
SIO_000300: 1.3693e1

MQRankSum
type: SiteQuality
SIO_000300: -1.22e0

DP
type: SiteQuality
SIO_000300: 9.4411e5

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

QD
type: SiteQuality
SIO_000300: 1.053e1

VQSLOD
type: SiteQuality
SIO_000300: -2.054e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7048
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.08620186089206e-5
allele num: 47934
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.521e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.362e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

DP
type: SiteQuality
SIO_000300: 9.33372e5

QD
type: SiteQuality
SIO_000300: 5.04e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7048
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3606
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.11632060727841e-4
allele num: 8958
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.45e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

DP
type: SiteQuality
SIO_000300: 9.33477e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

QD
type: SiteQuality
SIO_000300: 7.5e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18098
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1004
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47758
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.11632060727841e-4
allele num: 8958
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.33477e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 7.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.45e-2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 60
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GenotypeQuality
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variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.093890028895682e-5
allele num: 47758
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.33477e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.45e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 584
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GenotypeQuality
all individuals: 2352
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8938
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7030
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.093714668564968e-5
allele num: 47762
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.797e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.354e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

DP
type: SiteQuality
SIO_000300: 9.31577e5

QD
type: SiteQuality
SIO_000300: 1.577e1

VQSLOD
type: SiteQuality
SIO_000300: -2.67e0

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8772
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 5.205080158234437e-4
allele num: 9606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.609787508048938e-4
allele num: 6212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47044
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.03706e5

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.268e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

FS
type: SiteQuality
SIO_000300: 8.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.531e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8726
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.450957632037145e-4
allele num: 6892
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.98298e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

FS
type: SiteQuality
SIO_000300: 7.06e0

MQRankSum
type: SiteQuality
SIO_000300: 2.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.982e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.150722642807983e-5
allele num: 46496
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6802
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.91136e5

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.25e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6126
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3420
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6792
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.163003979927323e-5
allele num: 46232
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.113e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 4.73e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

DP
type: SiteQuality
SIO_000300: 8.81033e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44916
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.05241001894338e-4
allele num: 9502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.871e1

VQSLOD
type: SiteQuality
SIO_000300: -2.018e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.32e-1

QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.18e-2

DP
type: SiteQuality
SIO_000300: 8.34024e5

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.29e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.206854936036688e-4
allele num: 8286
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9546
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 5932
num of homozygotes: 0

East Asian
type: Population
allele count: 29
allele frequency: 4.439681567666871e-3
allele num: 6532
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.18e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.103e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2058
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42602
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.06224771616741e-4
allele num: 9414
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.266784899923993e-4
allele num: 7894
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3090
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 25
allele frequency: 3.99872040946897e-3
allele num: 6252
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

FS
type: SiteQuality
SIO_000300: 2.094e0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

QD
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.53e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7140
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9072
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.639358108108108e-5
allele num: 37888
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2548
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.884e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 6.94467e5

VQSLOD
type: SiteQuality
SIO_000300: -8.645e-1

QD
type: SiteQuality
SIO_000300: 1.195e1

FS
type: SiteQuality
SIO_000300: 3.245e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.12e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8070
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 28486
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4416
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1594
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African
type: Population
allele count: 1
allele frequency: 2.592016588906169e-4
allele num: 3858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5296
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
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FS
type: SiteQuality
SIO_000300: 6.658e0

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.76e-2

QD
type: SiteQuality
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VQSLOD
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SIO_000300: -1.085e0

DP
type: SiteQuality
SIO_000300: 5.80436e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.510496384188724e-5
allele num: 28486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5296
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3858
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8070
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4416
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.658e0

DP
type: SiteQuality
SIO_000300: 5.80436e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.76e-2

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 1
allele frequency: 2.787068004459309e-4
allele num: 3588
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.784151971543177e-5
allele num: 26426
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4812
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Other
type: Population
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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African
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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allele num: 210
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Latino
type: Population
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allele num: 1896
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.98e-2

QD
type: SiteQuality
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.37519e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 1864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1964
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Other
type: Population
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allele frequency: 0.0e0
allele num: 210
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13924
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1802
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-2

BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

South Asian
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African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 7.376807317792859e-5
allele num: 13556
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 1910
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9042
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 3.80852e5

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.68e-2

QD
type: SiteQuality
SIO_000300: 1.192e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1024
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.900990099009901e-4
allele num: 1010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 8.802816901408451e-4
allele num: 9088
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.316e-1

FS
type: SiteQuality
SIO_000300: 5.352e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.79105e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.67e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 18635
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 4.905567819475104e-4
allele num: 8154
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.086e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

FS
type: SiteQuality
SIO_000300: 3.427e0

DP
type: SiteQuality
SIO_000300: 3.62022e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.81e-2

QD
type: SiteQuality
SIO_000300: 1.379e1

GenotypeQuality
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bin: 2.5e0
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: 8
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17887
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1066
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.168e0

DP
type: SiteQuality
SIO_000300: 3.44121e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.18e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

QD
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 5.706e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.016129032258064e-3
allele num: 496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6058
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.12711e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

QD
type: SiteQuality
SIO_000300: 5.9e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.68e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.963864886095837e-4
allele num: 5092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.850000000000001e-2

FS
type: SiteQuality
SIO_000300: 2.197e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

VQSLOD
type: SiteQuality
SIO_000300: -2.5e0

QD
type: SiteQuality
SIO_000300: 7.84e0

DP
type: SiteQuality
SIO_000300: 3.00716e5

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.59e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 666
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GenotypeQuality
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GenotypeQuality
all individuals: 15
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variant carriers: 14

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 1.302648719062093e-3
allele num: 4606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.067805659369995e-3
allele num: 3746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.3079e1

QD
type: SiteQuality
SIO_000300: 1.395e1

DP
type: SiteQuality
SIO_000300: 2.4183e5

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.74e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.779359430604982e-3
allele num: 562
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.0276e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.89e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

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: 4
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.760000000000001e-2

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.8552e4

GenotypeQuality
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variant carriers: 6

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 207

GenotypeQuality
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bin: 7.75e1
variant carriers: 14

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.555555555555555e-2
allele num: 18
num of homozygotes: 0

South Asian
type: Population
allele count: 70
allele frequency: 1.085944771951598e-2
allele num: 6446
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 2.0e-2
allele num: 150
num of homozygotes: 0

European (Non-Finnish)
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allele count: 117
allele frequency: 1.937727724412057e-2
allele num: 6038
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.265822784810127e-3
allele num: 1580
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East Asian
type: Population
allele count: 1
allele frequency: 2.717391304347826e-3
allele num: 368
num of homozygotes: 0

Latino
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allele count: 5
allele frequency: 1.773049645390071e-2
allele num: 282
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.81675e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.86e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.388e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1