17-29559689-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559689
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559689
    reference: chr 17
allele count: 10
allele frequency: 8.568539749455897e-5
allele num: 116706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2313-29A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3315-29A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3417-29A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2716-29A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1851-29A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3315-29A>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24280
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10670
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6244
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

17-29559689-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559689
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559689
    reference: chr 17
allele count: 2
allele frequency: 1.71370794989118e-5
allele num: 116706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1851-29A>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3315-29A>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2716-29A>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2313-29A>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3315-29A>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3417-29A>T
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24280
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10670
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24597
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

17-29559690-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559690
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559690
    reference: chr 17
allele count: 1
allele frequency: 8.555344523723971e-6
allele num: 116886
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3315-28T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3417-28T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2716-28T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3315-28T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2313-28T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1851-28T>C
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24712
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2623
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-29559691-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559691
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559691
    reference: chr 17
allele count: 6
allele frequency: 5.128818833022755e-5
allele num: 116986
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3315-27G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2313-27G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2716-27G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3417-27G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3315-27G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1851-27G>A
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11252
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24877
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-29559692-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559692
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559692
    reference: chr 17
allele count: 1
allele frequency: 8.53373384990869e-6
allele num: 117182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1851-26T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3315-26T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3315-26T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2313-26T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2716-26T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3417-26T>C
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5467
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10663
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6422
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25702
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

17-29559695-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559695
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559696
    reference: chr 17
allele count: 1
allele frequency: 8.49689863199932e-6
allele num: 117690
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2716-21dupG
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2313-21dupG
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3417-21dupG
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3315-21dupG
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3315-21dupG
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1851-21dupG
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11680
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27082
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

17-29559699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559699
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559699
    reference: chr 17
allele count: 1
allele frequency: 8.451799388089724e-6
allele num: 118318
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3315-19C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2313-19C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2716-19C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3315-19C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1851-19C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3417-19C>T
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6746
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10671
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

17-29559703-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559703
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559703
    reference: chr 17
allele count: 1
allele frequency: 8.41226845231085e-6
allele num: 118874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3315-15C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2716-15C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3315-15C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1851-15C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2313-15C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3417-15C>T
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12472
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28340
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-29559708-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559708
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559708
    reference: chr 17
allele count: 1
allele frequency: 8.365540664893172e-6
allele num: 119538
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3315-10T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2716-10T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3417-10T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2313-10T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1851-10T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3315-10T>C
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12657
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10680
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

17-29559710-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559710
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559710
    reference: chr 17
allele count: 2
allele frequency: 1.670453026860885e-5
allele num: 119728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1851-8T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3315-8T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3315-8T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2313-8T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3417-8T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2716-8T>C
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12749
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
hgvs: c.3315-8T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

17-29559715-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559715
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559715
    reference: chr 17
allele count: 3
allele frequency: 2.496629550107355e-5
allele num: 120162
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3315-3C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2716-3C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1851-3C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2313-3C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3417-3C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3315-3C>T
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
hgvs: c.3315-3C>T
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-29559761-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559761
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559761
    reference: chr 17
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2759G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2356G>A
  hgvsp: ENSP00000389907.2:p.Val786Ile
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1894G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3358G>A
  hgvsp: ENSP00000348498.3:p.Val1120Ile
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3358G>A
  hgvsp: ENSP00000351015.4:p.Val1120Ile
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3460G>A
  hgvsp: ENSP00000462408.1:p.Val1154Ile
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6096
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10697
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val1120Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

17-29559761-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559761
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559761
    reference: chr 17
allele count: 8
allele frequency: 6.593805120089676e-5
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3358G>C
  hgvsp: ENSP00000348498.3:p.Val1120Leu
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1894G>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3460G>C
  hgvsp: ENSP00000462408.1:p.Val1154Leu
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3358G>C
  hgvsp: ENSP00000351015.4:p.Val1120Leu
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2356G>C
  hgvsp: ENSP00000389907.2:p.Val786Leu
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2759G>C
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10697
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val1120Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

17-29559762-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559762
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559762
    reference: chr 17
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1895T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2760T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3461T>C
  hgvsp: ENSP00000462408.1:p.Val1154Ala
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3359T>C
  hgvsp: ENSP00000351015.4:p.Val1120Ala
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3359T>C
  hgvsp: ENSP00000348498.3:p.Val1120Ala
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2357T>C
  hgvsp: ENSP00000389907.2:p.Val786Ala
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3544
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val1120Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

17-29559765-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559765
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559765
    reference: chr 17
allele count: 4
allele frequency: 3.297065611605671e-5
allele num: 121320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3464A>G
  hgvsp: ENSP00000462408.1:p.Glu1155Gly
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2360A>G
  hgvsp: ENSP00000389907.2:p.Glu787Gly
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1898A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2763A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3362A>G
  hgvsp: ENSP00000348498.3:p.Glu1121Gly
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3362A>G
  hgvsp: ENSP00000351015.4:p.Glu1121Gly
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu1121Gly
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ

17-29559774-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559774
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559774
    reference: chr 17
allele count: 4
allele frequency: 3.296739524610161e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3371G>A
  hgvsp: ENSP00000348498.3:p.Ser1124Asn
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2772G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2369G>A
  hgvsp: ENSP00000389907.2:p.Ser790Asn
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3473G>A
  hgvsp: ENSP00000462408.1:p.Ser1158Asn
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3371G>A
  hgvsp: ENSP00000351015.4:p.Ser1124Asn
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1907G>A
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser1124Asn
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

17-29559778-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559778
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559778
    reference: chr 17
allele count: 2
allele frequency: 1.648451280022419e-5
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3477G>A
  hgvsp: ENST00000579081.1:c.3477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3375G>A
  hgvsp: ENST00000356175.3:c.3375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3375G>A
  hgvsp: ENST00000358273.4:c.3375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1911G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2373G>A
  hgvsp: ENST00000456735.2:c.2373G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2776G>A
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10691
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31180
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala1125Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

17-29559778-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559778
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559778
    reference: chr 17
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2776G>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3375G>T
  hgvsp: ENST00000356175.3:c.3375G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3375G>T
  hgvsp: ENST00000358273.4:c.3375G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3477G>T
  hgvsp: ENST00000579081.1:c.3477G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2373G>T
  hgvsp: ENST00000456735.2:c.2373G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1911G>T
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31180
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala1125Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

17-29559783-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559783
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559783
    reference: chr 17
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1916C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3380C>T
  hgvsp: ENSP00000348498.3:p.Thr1127Ile
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2781C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3482C>T
  hgvsp: ENSP00000462408.1:p.Thr1161Ile
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3380C>T
  hgvsp: ENSP00000351015.4:p.Thr1127Ile
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2378C>T
  hgvsp: ENSP00000389907.2:p.Thr793Ile
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr1127Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP

17-29559791-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559791
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559791
    reference: chr 17
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3388A>G
  hgvsp: ENSP00000351015.4:p.Arg1130Gly
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3388A>G
  hgvsp: ENSP00000348498.3:p.Arg1130Gly
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2386A>G
  hgvsp: ENSP00000389907.2:p.Arg796Gly
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3490A>G
  hgvsp: ENSP00000462408.1:p.Arg1164Gly
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1924A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2789A>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10691
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg1130Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

17-29559797-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559797
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559797
    reference: chr 17
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3394C>T
  hgvsp: ENSP00000351015.4:p.Arg1132Cys
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2795C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3496C>T
  hgvsp: ENSP00000462408.1:p.Arg1166Cys
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2392C>T
  hgvsp: ENSP00000389907.2:p.Arg798Cys
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3394C>T
  hgvsp: ENSP00000348498.3:p.Arg1132Cys
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1930C>T
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10691
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31175
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7317
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg1132Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-29559798-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559798
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559798
    reference: chr 17
allele count: 12
allele frequency: 9.888751545117429e-5
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3497G>A
  hgvsp: ENSP00000462408.1:p.Arg1166His
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3395G>A
  hgvsp: ENSP00000348498.3:p.Arg1132His
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1931G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3395G>A
  hgvsp: ENSP00000351015.4:p.Arg1132His
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2393G>A
  hgvsp: ENSP00000389907.2:p.Arg798His
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2796G>A
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10697
  bin: 9.75e1
  variant carriers: 12
hgvs: p.Arg1132His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum

17-29559826-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559826
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559826
    reference: chr 17
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2421G>C
  hgvsp: ENST00000456735.2:c.2421G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3525G>C
  hgvsp: ENST00000579081.1:c.3525G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3423G>C
  hgvsp: ENST00000358273.4:c.3423G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3423G>C
  hgvsp: ENST00000356175.3:c.3423G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2824G>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1959G>C
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31080
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3548
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu1141Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

17-29559838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559838
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559838
    reference: chr 17
allele count: 5
allele frequency: 4.12173970389422e-5
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3435G>A
  hgvsp: ENST00000356175.3:c.3435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3537G>A
  hgvsp: ENST00000579081.1:c.3537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3435G>A
  hgvsp: ENST00000358273.4:c.3435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2836G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2433G>A
  hgvsp: ENST00000456735.2:c.2433G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1971G>A
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10699
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr1145Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

17-29559839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559839
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559839
    reference: chr 17
allele count: 13
allele frequency: 1.071528659270371e-4
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3538G>A
  hgvsp: ENSP00000462408.1:p.Val1180Ile
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2837G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3436G>A
  hgvsp: ENSP00000348498.3:p.Val1146Ile
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3436G>A
  hgvsp: ENSP00000351015.4:p.Val1146Ile
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2434G>A
  hgvsp: ENSP00000389907.2:p.Val812Ile
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1972G>A
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7332
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3011
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31017
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val1146Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD

17-29559844-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559844
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559844
    reference: chr 17
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1977T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2439T>C
  hgvsp: ENST00000456735.2:c.2439T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2842T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3543T>C
  hgvsp: ENST00000579081.1:c.3543T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3441T>C
  hgvsp: ENST00000358273.4:c.3441T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3441T>C
  hgvsp: ENST00000356175.3:c.3441T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3551
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu1147Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-29559857-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559857
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559857
    reference: chr 17
allele count: 2
allele frequency: 1.64866870002473e-5
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2855T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3454T>C
  hgvsp: ENST00000358273.4:c.3454T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3556T>C
  hgvsp: ENST00000579081.1:c.3556T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1990T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3454T>C
  hgvsp: ENST00000356175.3:c.3454T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2452T>C
  hgvsp: ENST00000456735.2:c.2452T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6164
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10699
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3550
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu1152Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

17-29559864-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559864
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559864
    reference: chr 17
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3461A>G
  hgvsp: ENSP00000351015.4:p.Asn1154Ser
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.1997A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2862A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3563A>G
  hgvsp: ENSP00000462408.1:p.Asn1188Ser
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2459A>G
  hgvsp: ENSP00000389907.2:p.Asn820Ser
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3461A>G
  hgvsp: ENSP00000348498.3:p.Asn1154Ser
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30794
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn1154Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-29559870-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559870
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559870
    reference: chr 17
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2003A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2868A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3569A>G
  hgvsp: ENSP00000462408.1:p.Asn1190Ser
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2465A>G
  hgvsp: ENSP00000389907.2:p.Asn822Ser
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3467A>G
  hgvsp: ENSP00000351015.4:p.Asn1156Ser
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3467A>G
  hgvsp: ENSP00000348498.3:p.Asn1156Ser
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7334
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30756
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn1156Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

17-29559871-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559871
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559871
    reference: chr 17
allele count: 86
allele frequency: 7.09243253942073e-4
allele num: 121256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3570C>T
  hgvsp: ENST00000579081.1:c.3570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2869C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3468C>T
  hgvsp: ENST00000358273.4:c.3468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2004C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2466C>T
  hgvsp: ENST00000456735.2:c.2466C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3468C>T
  hgvsp: ENST00000356175.3:c.3468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 27847
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 13984
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn1156Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-29559887-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559887
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559887
    reference: chr 17
allele count: 11
allele frequency: 9.076356915358846e-5
allele num: 121194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3484A>G
  hgvsp: ENSP00000348498.3:p.Met1162Val
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3484A>G
  hgvsp: ENSP00000351015.4:p.Met1162Val
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2885A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2020A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2482A>G
  hgvsp: ENSP00000389907.2:p.Met828Val
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3586A>G
  hgvsp: ENSP00000462408.1:p.Met1196Val
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met1162Val
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

17-29559887-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559887
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559887
    reference: chr 17
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2885A>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2020A>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3586A>T
  hgvsp: ENSP00000462408.1:p.Met1196Leu
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3484A>T
  hgvsp: ENSP00000351015.4:p.Met1162Leu
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3484A>T
  hgvsp: ENSP00000348498.3:p.Met1162Leu
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2482A>T
  hgvsp: ENSP00000389907.2:p.Met828Leu
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met1162Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

17-29559888-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559888
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559888
    reference: chr 17
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2483T>G
  hgvsp: ENSP00000389907.2:p.Met828Arg
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3587T>G
  hgvsp: ENSP00000462408.1:p.Met1196Arg
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3485T>G
  hgvsp: ENSP00000351015.4:p.Met1162Arg
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2021T>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3485T>G
  hgvsp: ENSP00000348498.3:p.Met1162Arg
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2886T>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30194
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met1162Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-29559893-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559893
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559893
    reference: chr 17
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2488T>G
  hgvsp: ENSP00000389907.2:p.Ser830Ala
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3490T>G
  hgvsp: ENSP00000348498.3:p.Ser1164Ala
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3592T>G
  hgvsp: ENSP00000462408.1:p.Ser1198Ala
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2891T>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3490T>G
  hgvsp: ENSP00000351015.4:p.Ser1164Ala
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2026T>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10707
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser1164Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

17-29559895-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559895
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559895
    reference: chr 17
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2490C>T
  hgvsp: ENST00000456735.2:c.2490C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3492C>T
  hgvsp: ENST00000356175.3:c.3492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3492C>T
  hgvsp: ENST00000358273.4:c.3492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2028C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2893C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3594C>T
  hgvsp: ENST00000579081.1:c.3594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10708
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3523
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser1164Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

17-29559901-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559901
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559901
    reference: chr 17
allele count: 1
allele frequency: 8.265555775970376e-6
allele num: 120984
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3496+2T>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2897+2T>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2032+2T>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3598+2T>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3496+2T>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2494+2T>A
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10704
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27237
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
hgvs: c.3496+2T>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum

17-29559907-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559907
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559907
    reference: chr 17
allele count: 3
allele frequency: 2.480117722921248e-5
allele num: 120962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2897+8C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3496+8C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3598+8C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2494+8C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3496+8C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2032+8C>T
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10708
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
hgvs: c.3496+8C>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

17-29559912-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559912
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559912
    reference: chr 17
allele count: 8
allele frequency: 6.620433969446698e-5
allele num: 120838
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2494+13G>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3598+13G>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3496+13G>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2897+13G>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3496+13G>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2032+13G>T
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13739
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24236
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25895
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-29559918-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559918
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559918
    reference: chr 17
allele count: 234
allele frequency: 1.937759817154971e-3
allele num: 120758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2032+19T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2494+19T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3496+19T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3496+19T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2897+19T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3598+19T>C
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23625
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13450
  bin: 2.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 3.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 3.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10899
  bin: 9.75e1
  variant carriers: 233
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-29559919-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559919
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559919
    reference: chr 17
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2897+20T>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3598+20T>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3496+20T>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2032+20T>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2494+20T>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3496+20T>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6915
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2922
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10726
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

17-29559920-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559920
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559918
    reference: chr 17
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2032+25_2032+26delTA
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2897+25_*2897+26delTA
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3496+25_3496+26delTA
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3496+25_3496+26delTA
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2494+25_2494+26delTA
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3598+25_3598+26delTA
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6880
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: CAT
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-29559921-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559921
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559921
    reference: chr 17
allele count: 5
allele frequency: 4.146074496666556e-5
allele num: 120596
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2494+22A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2897+22A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3598+22A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3496+22A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2032+22A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3496+22A>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23490
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10729
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

17-29559923-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559923
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559923
    reference: chr 17
allele count: 1
allele frequency: 8.29462508294625e-6
allele num: 120560
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2032+24A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3496+24A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3598+24A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2494+24A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3496+24A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2897+24A>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6857
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22404
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP

17-29559925-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559925
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559925
    reference: chr 17
allele count: 1
allele frequency: 8.297653423611802e-6
allele num: 120516
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3496+26A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2494+26A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3496+26A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3598+26A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2032+26A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2897+26A>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6873
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/17-29559932-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559932
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559932
    reference: chr 17
allele count: 44038
allele frequency: 3.676266800233742e-1
allele num: 119790
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3496+33C>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3496+33C>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2897+33C>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2494+33C>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3598+33C>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2032+33C>A
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 4.25e1
  variant carriers: 3510
genotype depth: GenotypeDepth
  all individuals: 8611
  bin: 3.25e1
  variant carriers: 5836
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 1.25e1
  variant carriers: 672
genotype depth: GenotypeDepth
  all individuals: 10869
  bin: 2.75e1
  variant carriers: 5402
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 5.25e1
  variant carriers: 1246
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 9.75e1
  variant carriers: 3032
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.75e1
  variant carriers: 731
genotype depth: GenotypeDepth
  all individuals: 12823
  bin: 2.25e1
  variant carriers: 3814
genotype depth: GenotypeDepth
  all individuals: 6153
  bin: 3.75e1
  variant carriers: 4967
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 4.75e1
  variant carriers: 2125
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 238
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.75e1
  variant carriers: 358
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.25e1
  variant carriers: 263
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 1.75e1
  variant carriers: 1915
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 286
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.25e1
  variant carriers: 244
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 494
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 296
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 5.25e1
  variant carriers: 285
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 3196
  bin: 6.75e1
  variant carriers: 491
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.5e0
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 35582
  bin: 9.75e1
  variant carriers: 30902
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.25e1
  variant carriers: 80
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 7.75e1
  variant carriers: 534
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 8.25e1
  variant carriers: 584
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 3.25e1
  variant carriers: 111
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 5.75e1
  variant carriers: 208
num of homozygotes: 8780
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-29559942-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559942
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559942
    reference: chr 17
allele count: 305
allele frequency: 2.536171628139032e-3
allele num: 120260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2032+43A>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2494+43A>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2897+43A>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3598+43A>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3496+43A>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3496+43A>C
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8680
  bin: 3.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 13208
  bin: 2.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 3.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11869
  bin: 2.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 4.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 5.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16994
  bin: 9.75e1
  variant carriers: 293
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6016
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14806
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 9
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

17-29559943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559943
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559943
    reference: chr 17
allele count: 4
allele frequency: 3.327012010513358e-5
allele num: 120228
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3496+44G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3598+44G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2897+44G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2494+44G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3496+44G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2032+44G>A
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8715
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6009
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14223
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

17-29559970-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559970
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559970
    reference: chr 17
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2033-50T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3497-50T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2898-50T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3599-50T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3497-50T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2495-50T>C
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18046
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
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: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD

17-29559975-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559975
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559975
    reference: chr 17
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2033-45C>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3599-45C>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2495-45C>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2898-45C>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3497-45C>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3497-45C>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14177
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14952
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3570
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18960
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/17-29559985-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559985
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559985
    reference: chr 17
allele count: 3
allele frequency: 2.47537006782514e-5
allele num: 121194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2898-35A>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3599-35A>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3497-35A>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2495-35A>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3497-35A>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2033-35A>C
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13578
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8364
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3536
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3235
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

17-29559985-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559985
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559985
    reference: chr 17
allele count: 2
allele frequency: 1.650246711883427e-5
allele num: 121194
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3497-35A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2495-35A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3599-35A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3497-35A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2898-35A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2033-35A>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14304
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3536
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14940
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

17-29559993-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29559993
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29559993
    reference: chr 17
allele count: 8
allele frequency: 6.598373500932021e-5
allele num: 121242
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3497-27A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2898-27A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2495-27A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2033-27A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3599-27A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3497-27A>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3529
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4623
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-29560001-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29560001
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29560001
    reference: chr 17
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3497-19A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2898-19A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3497-19A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3599-19A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2033-19A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2495-19A>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8695
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14935
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-29560002-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29560002
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29560002
    reference: chr 17
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2033-18T>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3599-18T>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3497-18T>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3497-18T>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2898-18T>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2495-18T>A
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

17-29560008-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29560008
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29560008
    reference: chr 17
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3599-12T>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2033-12T>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2898-12T>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3497-12T>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2495-12T>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3497-12T>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4555
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14932
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8710
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3530
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-29560021-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29560021
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29560021
    reference: chr 17
allele count: 151
allele frequency: 1.244396097046413e-3
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3600C>T
  hgvsp: ENST00000579081.1:c.3600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3498C>T
  hgvsp: ENST00000358273.4:c.3498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2034C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3498C>T
  hgvsp: ENST00000356175.3:c.3498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2899C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2496C>T
  hgvsp: ENST00000456735.2:c.2496C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 13827
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14388
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21350
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8714
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15008
  bin: 9.75e1
  variant carriers: 146
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 8.75e1
  variant carriers: 0
hgvs: c.3498C>T
num of homozygotes: 3
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

17-29560036-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29560036
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29560036
    reference: chr 17
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2914G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2049G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3513G>A
  hgvsp: ENST00000358273.4:c.3513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3615G>A
  hgvsp: ENST00000579081.1:c.3615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3513G>A
  hgvsp: ENST00000356175.3:c.3513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2511G>A
  hgvsp: ENST00000456735.2:c.2511G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8751
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21482
  bin: 6.25e1
  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: 5.75e1
  variant carriers: 0
hgvs: p.Lys1171Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-29560074-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29560074
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29560074
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462157
  ensembl transcript: ENST00000479614
  gene symbol: NF1
  hgvsc: ENST00000479614.1:c.27C>G
  hgvsp: ENSP00000462157.1:p.Thr10Arg
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2087C>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3551C>G
  hgvsp: ENSP00000351015.4:p.Thr1184Arg
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3551C>G
  hgvsp: ENSP00000348498.3:p.Thr1184Arg
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2952C>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2549C>G
  hgvsp: ENSP00000389907.2:p.Thr850Arg
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463819
  ensembl transcript: ENST00000466819
  gene symbol: NF1
  hgvsc: ENST00000466819.1:c.27C>G
  hgvsp: ENSP00000463819.1:p.Thr10Arg
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3653C>G
  hgvsp: ENSP00000462408.1:p.Thr1218Arg
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14881
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr1184Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

17-29560086-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29560086
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29560086
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463819
  ensembl transcript: ENST00000466819
  gene symbol: NF1
  hgvsc: ENST00000466819.1:c.39A>T
  hgvsp: ENSP00000463819.1:p.Gln14Leu
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3665A>T
  hgvsp: ENSP00000462408.1:p.Gln1222Leu
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2561A>T
  hgvsp: ENSP00000389907.2:p.Gln854Leu
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3563A>T
  hgvsp: ENSP00000351015.4:p.Gln1188Leu
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2099A>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462157
  ensembl transcript: ENST00000479614
  gene symbol: NF1
  hgvsc: ENST00000479614.1:c.39A>T
  hgvsp: ENSP00000462157.1:p.Gln14Leu
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2964A>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3563A>T
  hgvsp: ENSP00000348498.3:p.Gln1188Leu
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln1188Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

17-29560087-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29560087
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29560087
    reference: chr 17
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463819
  ensembl transcript: ENST00000466819
  gene symbol: NF1
  hgvsc: ENST00000466819.1:c.40A>G
  hgvsp: ENST00000466819.1:c.40A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2562A>G
  hgvsp: ENST00000456735.2:c.2562A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3666A>G
  hgvsp: ENST00000579081.1:c.3666A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462157
  ensembl transcript: ENST00000479614
  gene symbol: NF1
  hgvsc: ENST00000479614.1:c.40A>G
  hgvsp: ENST00000479614.1:c.40A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3564A>G
  hgvsp: ENST00000356175.3:c.3564A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2100A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2965A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3564A>G
  hgvsp: ENST00000358273.4:c.3564A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8755
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln1188Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

17-29560089-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29560089
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29560089
    reference: chr 17
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463819
  ensembl transcript: ENST00000466819
  gene symbol: NF1
  hgvsc: ENST00000466819.1:c.42A>G
  hgvsp: ENSP00000463819.1:p.Gln15Arg
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2102A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3668A>G
  hgvsp: ENSP00000462408.1:p.Gln1223Arg
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3566A>G
  hgvsp: ENSP00000351015.4:p.Gln1189Arg
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3566A>G
  hgvsp: ENSP00000348498.3:p.Gln1189Arg
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462157
  ensembl transcript: ENST00000479614
  gene symbol: NF1
  hgvsc: ENST00000479614.1:c.42A>G
  hgvsp: ENSP00000462157.1:p.Gln15Arg
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2967A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2564A>G
  hgvsp: ENSP00000389907.2:p.Gln855Arg
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21516
  bin: 6.25e1
  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: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14882
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln1189Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-29560113-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29560113
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29560113
    reference: chr 17
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462157
  ensembl transcript: ENST00000479614
  gene symbol: NF1
  hgvsc: ENST00000479614.1:c.66C>G
  hgvsp: ENSP00000462157.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2588C>G
  hgvsp: ENSP00000389907.2:p.Ala863Gly
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3590C>G
  hgvsp: ENSP00000351015.4:p.Ala1197Gly
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2126C>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3590C>G
  hgvsp: ENSP00000348498.3:p.Ala1197Gly
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*2991C>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3692C>G
  hgvsp: ENSP00000462408.1:p.Ala1231Gly
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463819
  ensembl transcript: ENST00000466819
  gene symbol: NF1
  hgvsc: ENST00000466819.1:c.66C>G
  hgvsp: ENSP00000463819.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala1197Gly
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/17-29560142-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29560142
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29560142
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2155A>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463819
  ensembl transcript: ENST00000466819
  gene symbol: NF1
  hgvsc: ENST00000466819.1:c.95A>C
  hgvsp: ENST00000466819.1:c.95A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462157
  ensembl transcript: ENST00000479614
  gene symbol: NF1
  hgvsc: ENST00000479614.1:c.95A>C
  hgvsp: ENST00000479614.1:c.95A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3721A>C
  hgvsp: ENST00000579081.1:c.3721A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3619A>C
  hgvsp: ENST00000358273.4:c.3619A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3619A>C
  hgvsp: ENST00000356175.3:c.3619A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2617A>C
  hgvsp: ENST00000456735.2:c.2617A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*3020A>C
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21517
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg1207Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

17-29560144-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29560144
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29560144
    reference: chr 17
allele count: 3
allele frequency: 2.471291826614165e-5
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3621A>G
  hgvsp: ENST00000358273.4:c.3621A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2157A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2619A>G
  hgvsp: ENST00000456735.2:c.2619A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3621A>G
  hgvsp: ENST00000356175.3:c.3621A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463819
  ensembl transcript: ENST00000466819
  gene symbol: NF1
  hgvsc: ENST00000466819.1:c.97A>G
  hgvsp: ENST00000466819.1:c.97A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462157
  ensembl transcript: ENST00000479614
  gene symbol: NF1
  hgvsc: ENST00000479614.1:c.97A>G
  hgvsp: ENST00000479614.1:c.97A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3723A>G
  hgvsp: ENST00000579081.1:c.3723A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*3022A>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13925
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21521
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg1207Arg
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

17-29560149-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29560149
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29560149
    reference: chr 17
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463819
  ensembl transcript: ENST00000466819
  gene symbol: NF1
  hgvsc: ENST00000466819.1:c.102T>C
  hgvsp: ENSP00000463819.1:p.Val35Ala
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2624T>C
  hgvsp: ENSP00000389907.2:p.Val875Ala
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*3027T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2162T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3626T>C
  hgvsp: ENSP00000351015.4:p.Val1209Ala
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462157
  ensembl transcript: ENST00000479614
  gene symbol: NF1
  hgvsc: ENST00000479614.1:c.102T>C
  hgvsp: ENSP00000462157.1:p.Val35Ala
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3728T>C
  hgvsp: ENSP00000462408.1:p.Val1243Ala
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3626T>C
  hgvsp: ENSP00000348498.3:p.Val1209Ala
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14878
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val1209Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-29560159-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29560159
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29560159
    reference: chr 17
allele count: 14
allele frequency: 1.153269519086611e-4
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3636C>A
  hgvsp: ENST00000356175.3:c.3636C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*3037C>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463819
  ensembl transcript: ENST00000466819
  gene symbol: NF1
  hgvsc: ENST00000466819.1:c.112C>A
  hgvsp: ENST00000466819.1:c.112C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3738C>A
  hgvsp: ENST00000579081.1:c.3738C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2634C>A
  hgvsp: ENST00000456735.2:c.2634C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462157
  ensembl transcript: ENST00000479614
  gene symbol: NF1
  hgvsc: ENST00000479614.1:c.112C>A
  hgvsp: ENST00000479614.1:c.112C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3636C>A
  hgvsp: ENST00000358273.4:c.3636C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2172C>A
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val1212Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-29560184-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29560184
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29560184
    reference: chr 17
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3661C>G
  hgvsp: ENSP00000348498.3:p.Leu1221Val
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3661C>G
  hgvsp: ENSP00000351015.4:p.Leu1221Val
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463819
  ensembl transcript: ENST00000466819
  gene symbol: NF1
  hgvsc: ENST00000466819.1:c.137C>G
  hgvsp: ENSP00000463819.1:p.Leu47Val
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2197C>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3763C>G
  hgvsp: ENSP00000462408.1:p.Leu1255Val
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2659C>G
  hgvsp: ENSP00000389907.2:p.Leu887Val
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462157
  ensembl transcript: ENST00000479614
  gene symbol: NF1
  hgvsc: ENST00000479614.1:c.137C>G
  hgvsp: ENSP00000462157.1:p.Leu47Val
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*3062C>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21528
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3539
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu1221Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS

17-29560186-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29560186
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29560186
    reference: chr 17
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3663C>T
  hgvsp: ENST00000356175.3:c.3663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462157
  ensembl transcript: ENST00000479614
  gene symbol: NF1
  hgvsc: ENST00000479614.1:c.139C>T
  hgvsp: ENST00000479614.1:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*3064C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2199C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3765C>T
  hgvsp: ENST00000579081.1:c.3765C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463819
  ensembl transcript: ENST00000466819
  gene symbol: NF1
  hgvsc: ENST00000466819.1:c.139C>T
  hgvsp: ENST00000466819.1:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2661C>T
  hgvsp: ENST00000456735.2:c.2661C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3663C>T
  hgvsp: ENST00000358273.4:c.3663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu1221Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

17-29560188-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29560188
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29560188
    reference: chr 17
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462157
  ensembl transcript: ENST00000479614
  gene symbol: NF1
  hgvsc: ENST00000479614.1:c.141C>T
  hgvsp: ENSP00000462157.1:p.Pro48Leu
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2201C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*3066C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463819
  ensembl transcript: ENST00000466819
  gene symbol: NF1
  hgvsc: ENST00000466819.1:c.141C>T
  hgvsp: ENSP00000463819.1:p.Pro48Leu
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3665C>T
  hgvsp: ENSP00000351015.4:p.Pro1222Leu
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3665C>T
  hgvsp: ENSP00000348498.3:p.Pro1222Leu
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3767C>T
  hgvsp: ENSP00000462408.1:p.Pro1256Leu
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2663C>T
  hgvsp: ENSP00000389907.2:p.Pro888Leu
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro1222Leu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

17-29560195-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29560195
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29560195
    reference: chr 17
allele count: 7
allele frequency: 5.767012687427912e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*3073G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2670G>A
  hgvsp: ENST00000456735.2:c.2670G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462157
  ensembl transcript: ENST00000479614
  gene symbol: NF1
  hgvsc: ENST00000479614.1:c.148G>A
  hgvsp: ENST00000479614.1:c.148G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3672G>A
  hgvsp: ENST00000356175.3:c.3672G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2208G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3774G>A
  hgvsp: ENST00000579081.1:c.3774G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3672G>A
  hgvsp: ENST00000358273.4:c.3672G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463819
  ensembl transcript: ENST00000466819
  gene symbol: NF1
  hgvsc: ENST00000466819.1:c.148G>A
  hgvsp: ENST00000466819.1:c.148G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4555
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala1224Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-29560196-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29560196
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29560196
    reference: chr 17
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3673A>G
  hgvsp: ENSP00000348498.3:p.Met1225Val
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*3074A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3775A>G
  hgvsp: ENSP00000462408.1:p.Met1259Val
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462157
  ensembl transcript: ENST00000479614
  gene symbol: NF1
  hgvsc: ENST00000479614.1:c.149A>G
  hgvsp: ENSP00000462157.1:p.Met51Val
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2209A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3673A>G
  hgvsp: ENSP00000351015.4:p.Met1225Val
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463819
  ensembl transcript: ENST00000466819
  gene symbol: NF1
  hgvsc: ENST00000466819.1:c.149A>G
  hgvsp: ENSP00000463819.1:p.Met51Val
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2671A>G
  hgvsp: ENSP00000389907.2:p.Met891Val
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14871
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met1225Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

17-29560201-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29560201
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29560201
    reference: chr 17
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.2676T>C
  hgvsp: ENST00000456735.2:c.2676T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462157
  ensembl transcript: ENST00000479614
  gene symbol: NF1
  hgvsc: ENST00000479614.1:c.154T>C
  hgvsp: ENST00000479614.1:c.154T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.3678T>C
  hgvsp: ENST00000356175.3:c.3678T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.3678T>C
  hgvsp: ENST00000358273.4:c.3678T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.3780T>C
  hgvsp: ENST00000579081.1:c.3780T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.2214T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463819
  ensembl transcript: ENST00000466819
  gene symbol: NF1
  hgvsc: ENST00000466819.1:c.154T>C
  hgvsp: ENST00000466819.1:c.154T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000463682
  ensembl transcript: ENST00000495910
  gene symbol: NF1
  hgvsc: ENST00000495910.2:c.*3079T>C
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  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: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala1226Ala
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

17-29560207-C-T
type: Variant
location: Region
allele count: 3
allele frequency: 2.471699045924168e-5
allele num: 121374
alternate allele: T
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Ala1228Ala
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 1290
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24597
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3158
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1876
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.231830500123183e-3
allele num: 8118
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16132
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 1.766234e6

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

FS
type: SiteQuality
SIO_000300: 1.113e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

MQRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.349e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

GenotypeQuality
all individuals: 1290
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3158
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6244
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2608
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.239771881973717e-4
allele num: 16132
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.349e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

FS
type: SiteQuality
SIO_000300: 1.113e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 1.766234e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3189
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6331
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1737
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10661
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 469
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567938787669729e-5
allele num: 63778
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.25e-1

DP
type: SiteQuality
SIO_000300: 1.771718e6

QD
type: SiteQuality
SIO_000300: 1.147e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: 2.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

GenotypeQuality
all individuals: 1649
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24989
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2628
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10666
bin: 9.75e1
variant carriers: 6

African
type: Population
allele count: 5
allele frequency: 4.96031746031746e-4
allele num: 10080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63826
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.824567596187787e-5
allele num: 11332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.777177e6

QD
type: SiteQuality
SIO_000300: 1.251e1

FS
type: SiteQuality
SIO_000300: 8.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.062e0

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

GenotypeQuality
all individuals: 1109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2218
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1504
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3233
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2205
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63938
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: 1
allele frequency: 1.224289911851126e-4
allele num: 8168
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.142e0

QD
type: SiteQuality
SIO_000300: 4.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.783202e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-1

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6544
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2708
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10663
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1937
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16224
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556226462074761e-5
allele num: 64258
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.798893e6

MQ
type: SiteQuality
SIO_000300: 6.057e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.03e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.72e-1

GenotypeQuality
all individuals: 2297
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3362
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27863
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16256
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.203079884504331e-4
allele num: 8312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64672
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.815322e6

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.92e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.464e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.234e0

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 3.052e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

GenotypeQuality
all individuals: 466
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3406
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 201
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2318
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10674
bin: 9.75e1
variant carriers: 1

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537609939110646e-5
allele num: 65036
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.389e0

MQ
type: SiteQuality
SIO_000300: 5.993e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

DP
type: SiteQuality
SIO_000300: 1.827649e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e0

QD
type: SiteQuality
SIO_000300: 3.5e0

GenotypeQuality
all individuals: 175
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2885
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6959
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29532
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3447
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
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: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527837193668643e-5
allele num: 65452
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.028e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.85e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.839036e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

QD
type: SiteQuality
SIO_000300: 1.812e1

GenotypeQuality
all individuals: 320
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3450
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29768
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10681
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7009
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525041176111755e-5
allele num: 65572
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
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: 8500
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.842618e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.289e1

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

GenotypeQuality
all individuals: 7069
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2924
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10679
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 619
bin: 2.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.826595226497808e-4
allele num: 16424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.39e-1

DP
type: SiteQuality
SIO_000300: 1.850986e6

FS
type: SiteQuality
SIO_000300: 5.147e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.023e0

GenotypeQuality
all individuals: 3542
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7306
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

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

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

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

Latino
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allele count: 0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

MQRankSum
type: SiteQuality
SIO_000300: 7.45e-1

DP
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SIO_000300: 1.870214e6

BaseQRankSum
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SIO_000300: -1.1e-1

VQSLOD
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SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 6
allele frequency: 8.993884158772035e-5
allele num: 66712
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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)
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allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -5.16e-1

QD
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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SIO_000300: -1.1e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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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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East Asian
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allele frequency: 1.163061177017911e-4
allele num: 8598
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MQ
type: SiteQuality
SIO_000300: 5.919e1

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

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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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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African
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East Asian
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allele frequency: 4.653327128897162e-4
allele num: 8596
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South Asian
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allele count: 0
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BaseQRankSum
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QD
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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DP
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FS
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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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: 4
allele frequency: 3.843936190659235e-4
allele num: 10406
num of homozygotes: 0

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

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

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

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

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

Latino
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allele count: 0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.68e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 8.93e-1

InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQ
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DP
type: SiteQuality
SIO_000300: 1.871139e6

MQRankSum
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ClippingRankSum
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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Latino
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Other
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

East Asian
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66714
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Latino
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African
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Other
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QD
type: SiteQuality
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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MQ
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele num: 66718
num of homozygotes: 0

East Asian
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Other
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South Asian
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Latino
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African
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European (Finnish)
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BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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European (Non-Finnish)
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South Asian
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East Asian
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Latino
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European (Finnish)
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ClippingRankSum
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MQ
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MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2994
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.267441860465116e-4
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

QD
type: SiteQuality
SIO_000300: 1.19e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 1.87181e6

FS
type: SiteQuality
SIO_000300: 1.728e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

GenotypeQuality
all individuals: 7321
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2388
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -9.313e-1

FS
type: SiteQuality
SIO_000300: 6.304e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

DP
type: SiteQuality
SIO_000300: 1.87229e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

MQ
type: SiteQuality
SIO_000300: 5.7e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.711e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2387
bin: 8.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.028467595396729e-4
allele num: 16510
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 1.762e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.502e1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

DP
type: SiteQuality
SIO_000300: 1.873056e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10710
bin: 9.75e1
variant carriers: 13

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.648829331174866e-4
allele num: 66714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.171e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.873162e6

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

FS
type: SiteQuality
SIO_000300: 1.153e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.285e1

GenotypeQuality
all individuals: 75
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
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GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2388
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.502e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.446e0

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.872996e6

VQSLOD
type: SiteQuality
SIO_000300: -2.653e0

QD
type: SiteQuality
SIO_000300: 1.278e1

MQ
type: SiteQuality
SIO_000300: 5.858e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.664e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

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

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
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variant carriers: 0

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

GenotypeQuality
all individuals: 1125
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variant carriers: 0

GenotypeQuality
all individuals: 34
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GenotypeQuality
all individuals: 7347
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variant carriers: 0

GenotypeQuality
all individuals: 3005
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.872886e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 8.327e0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

QD
type: SiteQuality
SIO_000300: 1.342e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

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

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 7341
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
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GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 1.872416e6

QD
type: SiteQuality
SIO_000300: 1.383e1

FS
type: SiteQuality
SIO_000300: 4.71e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10699
bin: 9.75e1
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GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.108e0

FS
type: SiteQuality
SIO_000300: 1.166e0

QD
type: SiteQuality
SIO_000300: 1.499e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e-1

MQ
type: SiteQuality
SIO_000300: 5.818e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

MQRankSum
type: SiteQuality
SIO_000300: -1.675e0

DP
type: SiteQuality
SIO_000300: 1.872063e6

GenotypeQuality
all individuals: 7318
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 67
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GenotypeQuality
all individuals: 70
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GenotypeQuality
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bin: 9.75e1
variant carriers: 86

GenotypeQuality
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GenotypeQuality
all individuals: 55
bin: 5.75e1
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GenotypeQuality
all individuals: 1336
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 79
allele frequency: 1.185011850118501e-3
allele num: 66666
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.875114e6

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

QD
type: SiteQuality
SIO_000300: 1.327e1

FS
type: SiteQuality
SIO_000300: 5.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 7287
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GenotypeQuality
all individuals: 2979
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.164686699277894e-3
allele num: 8586
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

FS
type: SiteQuality
SIO_000300: 1.142e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.233e1

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 1.869437e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 30111
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10716
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2979
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 2.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.164686699277894e-4
allele num: 8586
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.869437e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.233e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

FS
type: SiteQuality
SIO_000300: 1.142e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3542
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2982
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10706
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.869331e6

FS
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.19e0

QD
type: SiteQuality
SIO_000300: 1.575e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.292e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e0

GenotypeQuality
all individuals: 1343
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29628
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3535
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2985
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.516e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

MQ
type: SiteQuality
SIO_000300: 5.988e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

DP
type: SiteQuality
SIO_000300: 1.866709e6

FS
type: SiteQuality
SIO_000300: 8.138e0

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.703e1

GenotypeQuality
all individuals: 2973
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7256
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.402e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.111e0

QD
type: SiteQuality
SIO_000300: 2.14e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.85e-1

DP
type: SiteQuality
SIO_000300: 1.866038e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 7058
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 710
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3520
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2391
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.002e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

FS
type: SiteQuality
SIO_000300: 1.771e0

DP
type: SiteQuality
SIO_000300: 1.858193e6

QD
type: SiteQuality
SIO_000300: 2.16e0

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

GenotypeQuality
all individuals: 1347
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3522
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7026
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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: 8506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.509515076812073e-5
allele num: 66526
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.091e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-1

DP
type: SiteQuality
SIO_000300: 1.854548e6

VQSLOD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

QD
type: SiteQuality
SIO_000300: 1.145e1

GenotypeQuality
all individuals: 518
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10711
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 7014
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.849072614862408e-4
allele num: 16498
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.84781e6

FS
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.731e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.71e-1

QD
type: SiteQuality
SIO_000300: 1.157e1

GenotypeQuality
all individuals: 1302
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24380
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6872
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3529
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 10
allele frequency: 8.674531575294934e-4
allele num: 11528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

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

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

African
type: Population
allele count: 222
allele frequency: 2.139965297860035e-2
allele num: 10374
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010687942194791e-5
allele num: 66430
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.45e0

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 1.84409e6

QD
type: SiteQuality
SIO_000300: 1.562e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

GenotypeQuality
all individuals: 2418
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24232
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3549
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505706628120577e-5
allele num: 66414
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.838e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

DP
type: SiteQuality
SIO_000300: 1.841744e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.346e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.51e-1

QD
type: SiteQuality
SIO_000300: 1.58e1

GenotypeQuality
all individuals: 3538
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1447
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10726
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 816
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2908
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2416
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506432466632521e-5
allele num: 66382
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 7.89e-1

DP
type: SiteQuality
SIO_000300: 1.84188e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQ
type: SiteQuality
SIO_000300: 5.994e1

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.856e0

QD
type: SiteQuality
SIO_000300: 1.59e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.13e-1

GenotypeQuality
all individuals: 22695
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2923
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3561
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2427
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.534432355866309e-5
allele num: 66362
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

FS
type: SiteQuality
SIO_000300: 7.761e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

QD
type: SiteQuality
SIO_000300: 1.366e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.64e-1

DP
type: SiteQuality
SIO_000300: 1.840533e6

GenotypeQuality
all individuals: 1494
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1745
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10729
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2939
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507386192342478e-5
allele num: 66340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.995e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.667e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

MQ
type: SiteQuality
SIO_000300: 5.68e1

MQRankSum
type: SiteQuality
SIO_000300: -2.255e0

FS
type: SiteQuality
SIO_000300: 1.129e1

DP
type: SiteQuality
SIO_000300: 1.840479e6

GenotypeQuality
all individuals: 3590
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2442
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2943
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10730
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22464
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66318
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-1

MQ
type: SiteQuality
SIO_000300: 5.496e1

FS
type: SiteQuality
SIO_000300: 1.9203e1

VQSLOD
type: SiteQuality
SIO_000300: -9.249000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.129e0

DP
type: SiteQuality
SIO_000300: 1.841071e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.34e0

QD
type: SiteQuality
SIO_000300: 8.6e0

GenotypeQuality
all individuals: 408
bin: 2.75e1
variant carriers: 85

GenotypeQuality
all individuals: 1142
bin: 9.25e1
variant carriers: 595

GenotypeQuality
all individuals: 842
bin: 8.75e1
variant carriers: 345

GenotypeQuality
all individuals: 1437
bin: 7.25e1
variant carriers: 274

GenotypeQuality
all individuals: 776
bin: 3.75e1
variant carriers: 166

GenotypeQuality
all individuals: 590
bin: 4.25e1
variant carriers: 130

GenotypeQuality
all individuals: 917
bin: 4.75e1
variant carriers: 231

GenotypeQuality
all individuals: 9291
bin: 6.25e1
variant carriers: 385

East Asian
type: Population
allele count: 3641
allele frequency: 4.415474169294203e-1
allele num: 8246
num of homozygotes: 805

Other
type: Population
allele count: 303
allele frequency: 3.366666666666667e-1
allele num: 900
num of homozygotes: 51

European (Finnish)
type: Population
allele count: 2261
allele frequency: 3.44769746874047e-1
allele num: 6558
num of homozygotes: 384

Latino
type: Population
allele count: 5704
allele frequency: 5.013183336262964e-1
allele num: 11378
num of homozygotes: 1447

South Asian
type: Population
allele count: 6035
allele frequency: 3.662459036290812e-1
allele num: 16478
num of homozygotes: 1153

European (Non-Finnish)
type: Population
allele count: 19746
allele frequency: 2.994449667889964e-1
allele num: 65942
num of homozygotes: 2982

African
type: Population
allele count: 6348
allele frequency: 6.170295489891136e-1
allele num: 10288
num of homozygotes: 1958

BaseQRankSum
type: SiteQuality
SIO_000300: -3.171e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

DP
type: SiteQuality
SIO_000300: 2.331252e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.09e-2

QD
type: SiteQuality
SIO_000300: 1.887e1

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

MQ
type: SiteQuality
SIO_000300: 5.982e1

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

GenotypeQuality
all individuals: 646
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4183
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3415
bin: 8.25e1
variant carriers: 1

African
type: Population
allele count: 288
allele frequency: 2.793946449359721e-2
allele num: 10308
num of homozygotes: 9

Latino
type: Population
allele count: 9
allele frequency: 7.82608695652174e-4
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.062348960850652e-5
allele num: 66208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.213592233009709e-4
allele num: 16480
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.499e1

FS
type: SiteQuality
SIO_000300: 2.444e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.26e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

DP
type: SiteQuality
SIO_000300: 2.248714e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.93e-1

GenotypeQuality
all individuals: 1094
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1818
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16816
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2527
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1414
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2997
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 5.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.480682213713888e-4
allele num: 11492
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.249056e6

QD
type: SiteQuality
SIO_000300: 1.546e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

FS
type: SiteQuality
SIO_000300: 1.2062e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.186e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.793e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.226e0

GenotypeQuality
all individuals: 878
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 660
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14958
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 374
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4742
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
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: 11560
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.162e0

QD
type: SiteQuality
SIO_000300: 1.03e1

DP
type: SiteQuality
SIO_000300: 2.563797e6

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

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

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8605
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3264
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 247
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

QD
type: SiteQuality
SIO_000300: 3.393e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 2.566411e6

GenotypeQuality
all individuals: 2491
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14940
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4631
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
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: 66664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.321e1

FS
type: SiteQuality
SIO_000300: 2.925e0

VQSLOD
type: SiteQuality
SIO_000300: 9.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

DP
type: SiteQuality
SIO_000300: 2.575055e6

GenotypeQuality
all individuals: 78
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4631
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 20633
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3235
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2491
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000120004800192e-5
allele num: 66664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.24e-1

FS
type: SiteQuality
SIO_000300: 2.925e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

DP
type: SiteQuality
SIO_000300: 2.575055e6

VQSLOD
type: SiteQuality
SIO_000300: 9.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

QD
type: SiteQuality
SIO_000300: 1.321e1

GenotypeQuality
all individuals: 14940
bin: 9.75e1
variant carriers: 8

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

GenotypeQuality
all individuals: 1645
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2491
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8690
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

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

African
type: Population
allele count: 5
allele frequency: 4.823461315840247e-4
allele num: 10366
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: 2
allele frequency: 1.729505361466621e-4
allele num: 11564
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.139e0

DP
type: SiteQuality
SIO_000300: 2.578232e6

QD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
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MQRankSum
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SIO_000300: -1.83e-1

ReadPosRankSum
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SIO_000300: 1.04e0

VQSLOD
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SIO_000300: 1.63e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

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

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

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

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

African
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allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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ReadPosRankSum
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SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 2.579792e6

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -1.823e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
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FS
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SIO_000300: 3.521e0

InbreedingCoeff
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ClippingRankSum
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SIO_000300: -1.659e0

QD
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VQSLOD
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.949e0

InbreedingCoeff
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DP
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ClippingRankSum
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MQRankSum
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MQ
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BaseQRankSum
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VQSLOD
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SIO_000300: -1.487e0

ReadPosRankSum
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SIO_000300: 2.84e-1

QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

African
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allele count: 144
allele frequency: 1.38568129330254e-2
allele num: 10392
num of homozygotes: 3

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.995024129972123e-5
allele num: 66722
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.58601e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.09e-2

ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
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BaseQRankSum
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SIO_000300: -3.424e0

QD
type: SiteQuality
SIO_000300: 1.283e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.953e1

DP
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FS
type: SiteQuality
SIO_000300: 2.039e0

ReadPosRankSum
type: SiteQuality
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QD
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BaseQRankSum
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SIO_000300: -3.77e0

InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

Other
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allele num: 908
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African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
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East Asian
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South Asian
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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East Asian
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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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 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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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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South Asian
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ClippingRankSum
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FS
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QD
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MQRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
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num of homozygotes: 0

South Asian
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African
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East Asian
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Other
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European (Non-Finnish)
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allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
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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: 6612
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.18e-1

BaseQRankSum
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SIO_000300: -5.9e-2

VQSLOD
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SIO_000300: 1.31e0

InbreedingCoeff
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SIO_000300: -3.0e-4

ClippingRankSum
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SIO_000300: 4.57e-1

FS
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DP
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SIO_000300: 2.582288e6

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
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MQRankSum
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SIO_000300: 2.83e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

MQ
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SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

ReadPosRankSum
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SIO_000300: 1.09e0

FS
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InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -1.071e0

QD
type: SiteQuality
SIO_000300: 1.423e1

DP
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SIO_000300: 2.582324e6

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
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: 66736
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)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

MQRankSum
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SIO_000300: -4.78e-1

ClippingRankSum
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FS
type: SiteQuality
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VQSLOD
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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SIO_000300: 5.969e1

DP
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SIO_000300: 2.582344e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 3.752e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.542e0

MQRankSum
type: SiteQuality
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DP
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SIO_000300: 2.582163e6

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.49e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.94803248718794e-4
allele num: 66734
num of homozygotes: 0

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

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

Latino
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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

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

InbreedingCoeff
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

VQSLOD
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.102e0

BaseQRankSum
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SIO_000300: -4.293e0

ReadPosRankSum
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SIO_000300: 5.600000000000001e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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QD
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DP
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MQ
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

Latino
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num of homozygotes: 0

South Asian
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allele num: 16512
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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African
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MQ
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FS
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQRankSum
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QD
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GenotypeQuality
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variant carriers: 0

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

Other
type: Population
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South Asian
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allele frequency: 1.211240310077519e-4
allele num: 16512
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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ReadPosRankSum
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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allele frequency: 4.805843906189927e-4
allele num: 10404
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
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East Asian
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allele num: 8644
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

FS
type: SiteQuality
SIO_000300: 3.429e0

QD
type: SiteQuality
SIO_000300: 1.321e1

DP
type: SiteQuality
SIO_000300: 2.581946e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

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

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

GenotypeQuality
all individuals: 21531
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3232
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1633
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3537
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8753
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4623
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 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: -3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.66e-1

DP
type: SiteQuality
SIO_000300: 2.581608e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

QD
type: SiteQuality
SIO_000300: 1.42e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.16e0

FS
type: SiteQuality
SIO_000300: 2.633e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.78e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 3231
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3537
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21529
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8751
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2480
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1633
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4622
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14871
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
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: 10404
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: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
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: 6608
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.382e1

FS
type: SiteQuality
SIO_000300: 3.115e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

VQSLOD
type: SiteQuality
SIO_000300: 8.129999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.52e-1

DP
type: SiteQuality
SIO_000300: 2.581595e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-3