4-1986581-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1986581
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1986581
    reference: chr 4
allele count: 1
allele frequency: 3.493815945775976e-5
allele num: 28622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*557C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.692C>T
  hgvsp: ENST00000453740.1:c.692C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.1002C>T
  hgvsp: ENST00000416258.1:c.1002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.1023C>T
  hgvsp: ENST00000382882.3:c.1023C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.585C>T
  hgvsp: ENST00000542778.1:c.585C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1309C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.990C>T
  hgvsp: ENST00000411638.2:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.514C>T
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14676
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30413
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser341Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

4-1986587-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1986587
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1986587
    reference: chr 4
allele count: 2
allele frequency: 6.832467887400929e-5
allele num: 29272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*551G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.508G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.984G>A
  hgvsp: ENST00000411638.2:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.996G>A
  hgvsp: ENST00000416258.1:c.996G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.1017G>A
  hgvsp: ENST00000382882.3:c.1017G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.686G>A
  hgvsp: ENST00000453740.1:c.686G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1303G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.579G>A
  hgvsp: ENST00000542778.1:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13687
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr339Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

4-1986588-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1986588
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1986588
    reference: chr 4
allele count: 1
allele frequency: 3.387763398604242e-5
allele num: 29518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.685C>T
  hgvsp: ENSP00000405119.1:p.Thr229Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.1016C>T
  hgvsp: ENSP00000372335.3:p.Thr339Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.578C>T
  hgvsp: ENSP00000445757.1:p.Thr193Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.983C>T
  hgvsp: ENSP00000399165.1:p.Thr328Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.507C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.995C>T
  hgvsp: ENSP00000387647.1:p.Thr332Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*550C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1302C>T
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr339Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

4-1986593-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1986593
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1986593
    reference: chr 4
allele count: 2
allele frequency: 6.688068485821294e-5
allele num: 29904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1297C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.680C>T
  hgvsp: ENST00000453740.1:c.680C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.1011C>T
  hgvsp: ENST00000382882.3:c.1011C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.573C>T
  hgvsp: ENST00000542778.1:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.978C>T
  hgvsp: ENST00000411638.2:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.502C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.990C>T
  hgvsp: ENST00000416258.1:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*545C>T
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12986
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro337Pro
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum

4-1986595-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1986595
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1986595
    reference: chr 4
allele count: 1
allele frequency: 3.329781566329249e-5
allele num: 30032
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1295C>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.988C>A
  hgvsp: ENSP00000387647.1:p.Pro330Thr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.500C>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.571C>A
  hgvsp: ENSP00000445757.1:p.Pro191Thr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.678C>A
  hgvsp: ENSP00000405119.1:p.Pro227Thr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*543C>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.976C>A
  hgvsp: ENSP00000399165.1:p.Pro326Thr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.1009C>A
  hgvsp: ENSP00000372335.3:p.Pro337Thr
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30504
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro337Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

4-1986605-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1986605
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1986605
    reference: chr 4
allele count: 1
allele frequency: 3.345376689415228e-5
allele num: 29892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.561G>A
  hgvsp: ENST00000542778.1:c.561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.668G>A
  hgvsp: ENST00000453740.1:c.668G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.966G>A
  hgvsp: ENST00000411638.2:c.966G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.999G>A
  hgvsp: ENST00000382882.3:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.490G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.978G>A
  hgvsp: ENST00000416258.1:c.978G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*533G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1285G>A
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14009
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13723
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr333Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD

4-1986606-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1986606
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1986606
    reference: chr 4
allele count: 2
allele frequency: 6.679580522343197e-5
allele num: 29942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.489C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.998C>T
  hgvsp: ENSP00000372335.3:p.Thr333Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*532C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.977C>T
  hgvsp: ENSP00000387647.1:p.Thr326Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.560C>T
  hgvsp: ENSP00000445757.1:p.Thr187Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.667C>T
  hgvsp: ENSP00000405119.1:p.Thr223Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.965C>T
  hgvsp: ENSP00000399165.1:p.Thr322Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1284C>T
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30235
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14232
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13935
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr333Met
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

4-1986611-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1986611
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1986611
    reference: chr 4
allele count: 1
allele frequency: 3.372908796546141e-5
allele num: 29648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.972C>T
  hgvsp: ENST00000416258.1:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.662C>T
  hgvsp: ENST00000453740.1:c.662C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.960C>T
  hgvsp: ENST00000411638.2:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.555C>T
  hgvsp: ENST00000542778.1:c.555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*527C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.484C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.993C>T
  hgvsp: ENST00000382882.3:c.993C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1279C>T
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15053
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro331Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/4-1986617-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1986617
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1986617
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 29400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.954G>T
  hgvsp: ENST00000411638.2:c.954G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.966G>T
  hgvsp: ENST00000416258.1:c.966G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.549G>T
  hgvsp: ENST00000542778.1:c.549G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.656G>T
  hgvsp: ENST00000453740.1:c.656G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*521G>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1273G>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.987G>T
  hgvsp: ENST00000382882.3:c.987G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.478G>T
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 29007
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala329Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

4-1986626-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1986626
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1986626
    reference: chr 4
allele count: 2
allele frequency: 6.991540236314061e-5
allele num: 28606
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.945T>C
  hgvsp: ENST00000411638.2:c.945T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.978T>C
  hgvsp: ENST00000382882.3:c.978T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1264T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.540T>C
  hgvsp: ENST00000542778.1:c.540T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.469T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.957T>C
  hgvsp: ENST00000416258.1:c.957T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*512T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.647T>C
  hgvsp: ENST00000453740.1:c.647T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn326Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

4-1986640-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1986640
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1986640
    reference: chr 4
allele count: 1
allele frequency: 3.723840023832576e-5
allele num: 26854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.931G>A
  hgvsp: ENSP00000399165.1:p.Gly311Arg
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.964G>A
  hgvsp: ENSP00000372335.3:p.Gly322Arg
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*498G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.455G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.633G>A
  hgvsp: ENSP00000405119.1:p.Gly212Arg
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.943G>A
  hgvsp: ENSP00000387647.1:p.Gly315Arg
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.526G>A
  hgvsp: ENSP00000445757.1:p.Gly176Arg
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1250G>A
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly322Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

4-1986641-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1986641
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1986641
    reference: chr 4
allele count: 1
allele frequency: 3.815046543567831e-5
allele num: 26212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1249T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.525T>C
  hgvsp: ENST00000542778.1:c.525T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.454T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.963T>C
  hgvsp: ENST00000382882.3:c.963T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.930T>C
  hgvsp: ENST00000411638.2:c.930T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.942T>C
  hgvsp: ENST00000416258.1:c.942T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.632T>C
  hgvsp: ENST00000453740.1:c.632T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*497T>C
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23543
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu321Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/4-1986651-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1986651
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1986649
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 23998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.520-7_520-6delGT
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.627-7_627-6delGT
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*492-7_*492-6delGT
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.937-7_937-6delGT
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.958-7_958-6delGT
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.449-7_449-6delGT
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1244-7_1244-6delGT
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.925-7_925-6delGT
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17155
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
hgvs: c.958-7_958-6delGT
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: AAC
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/4-1986655-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1986655
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1986656
    reference: chr 4
allele count: 11
allele frequency: 4.915102770330652e-4
allele num: 22380
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.937-10dupT
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.449-10dupT
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.627-10dupT
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.958-10dupT
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.520-10dupT
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1244-10dupT
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*492-10dupT
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.925-10dupT
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15071
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30564
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

4-1986668-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1986668
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1986668
    reference: chr 4
allele count: 1
allele frequency: 5.256518082422203e-5
allele num: 19024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.937-22A>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*492-22A>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.449-22A>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1244-22A>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.520-22A>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.627-22A>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.925-22A>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.958-22A>C
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10755
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8372
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

4-1986674-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1986674
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1986674
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 17596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1244-28G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.520-28G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.925-28G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*492-28G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.958-28G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.449-28G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.937-28G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.627-28G>A
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9476
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6079
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4418
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

4-1986679-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1986679
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1986679
    reference: chr 4
allele count: 1
allele frequency: 5.754402117619979e-5
allele num: 17378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.958-33C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.925-33C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.520-33C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.937-33C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.449-33C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*492-33C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.627-33C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1244-33C>T
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4279
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

4-1986692-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1986692
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1986692
    reference: chr 4
allele count: 1
allele frequency: 6.411900487304436e-5
allele num: 15596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.449-46G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*492-46G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.627-46G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.520-46G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1244-46G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.937-46G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.958-46G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.925-46G>A
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34745
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27046
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

4-1987455-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987455
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987455
    reference: chr 4
allele count: 1
allele frequency: 8.767622922073367e-6
allele num: 114056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.626+48C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.519+48C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.936+48C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.924+48C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*491+48C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.448+48C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1243+48C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.957+48C>T
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16614
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4097
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26552
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

4-1987456-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987456
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987456
    reference: chr 4
allele count: 2
allele frequency: 1.753678340318819e-5
allele num: 114046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.924+47C>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.448+47C>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.626+47C>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.936+47C>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.957+47C>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1243+47C>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*491+47C>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.519+47C>G
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17343
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

4-1987460-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987460
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987460
    reference: chr 4
allele count: 1
allele frequency: 8.745386808458538e-6
allele num: 114346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.519+43T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1243+43T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*491+43T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.626+43T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.924+43T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.957+43T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.448+43T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.936+43T>C
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19049
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3003
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

4-1987463-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987463
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987463
    reference: chr 4
allele count: 9
allele frequency: 7.886158914864533e-5
allele num: 114124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.626+40G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.448+40G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.519+40G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*491+40G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1243+40G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.957+40G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.924+40G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.936+40G>A
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20733
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17326
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

4-1987464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987464
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987464
    reference: chr 4
allele count: 1
allele frequency: 8.749671887304227e-6
allele num: 114290
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.957+39C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.448+39C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.626+39C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.924+39C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1243+39C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.519+39C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.936+39C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*491+39C>T
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2433
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

4-1987467-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987467
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987467
    reference: chr 4
allele count: 1
allele frequency: 8.728745504696065e-6
allele num: 114564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.626+36C>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.936+36C>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*491+36C>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.957+36C>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.519+36C>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1243+36C>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.448+36C>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.924+36C>G
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17930
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD

4-1987471-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987471
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987471
    reference: chr 4
allele count: 1
allele frequency: 8.721589422456349e-6
allele num: 114658
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.924+32A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*491+32A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1243+32A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.936+32A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.519+32A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.448+32A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.626+32A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.957+32A>G
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/4-1987479-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987479
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987479
    reference: chr 4
allele count: 4
allele frequency: 3.477595590408791e-5
allele num: 115022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.626+24T>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.519+24T>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.936+24T>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1243+24T>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.448+24T>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*491+24T>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.957+24T>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.924+24T>G
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26296
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

4-1987480-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987480
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987480
    reference: chr 4
allele count: 10
allele frequency: 8.692024198595368e-5
allele num: 115048
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.448+23A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.957+23A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.936+23A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.626+23A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1243+23A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.519+23A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*491+23A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.924+23A>G
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19118
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26362
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

4-1987481-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987481
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987481
    reference: chr 4
allele count: 3
allele frequency: 2.608287398494149e-5
allele num: 115018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*491+22C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1243+22C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.957+22C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.936+22C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.924+22C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.519+22C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.626+22C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.448+22C>T
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26444
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40580
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP

4-1987486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987486
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987486
    reference: chr 4
allele count: 2
allele frequency: 1.735538624412086e-5
allele num: 115238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1243+17C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.626+17C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.448+17C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.519+17C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.957+17C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.936+17C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.924+17C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*491+17C>T
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

4-1987489-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987489
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987489
    reference: chr 4
allele count: 4
allele frequency: 3.465844106332097e-5
allele num: 115412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*491+14C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.519+14C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.957+14C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.936+14C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1243+14C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.448+14C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.626+14C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.924+14C>T
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26066
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

4-1987490-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987490
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987490
    reference: chr 4
allele count: 12
allele frequency: 1.039555070429856e-4
allele num: 115434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.626+13G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.519+13G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.448+13G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.957+13G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.924+13G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1243+13G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.936+13G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*491+13G>A
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26102
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

4-1987493-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987493
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987493
    reference: chr 4
allele count: 23
allele frequency: 1.988896767610384e-4
allele num: 115642
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.957+10G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.924+10G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.936+10G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.626+10G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.448+10G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1243+10G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*491+10G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.519+10G>A
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26355
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20573
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

4-1987494-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987494
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987494
    reference: chr 4
allele count: 17
allele frequency: 1.468428781204112e-4
allele num: 115770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1243+9C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*491+9C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.957+9C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.936+9C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.519+9C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.626+9C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.924+9C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.448+9C>T
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20656
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6988
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

4-1987496-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987496
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987496
    reference: chr 4
allele count: 1
allele frequency: 8.624704603867318e-6
allele num: 115946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.519+7C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.626+7C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1243+7C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.924+7C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*491+7C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.957+7C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.936+7C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.448+7C>T
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 7.25e1
  variant carriers: 0
hgvs: c.957+7C>T
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

4-1987496-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987496
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987496
    reference: chr 4
allele count: 2
allele frequency: 1.724940920773464e-5
allele num: 115946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.448+7C>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*491+7C>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.957+7C>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.626+7C>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1243+7C>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.936+7C>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.519+7C>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.924+7C>A
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20704
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
hgvs: c.957+7C>A
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/4-1987497-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987497
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987497
    reference: chr 4
allele count: 3
allele frequency: 2.585939385580802e-5
allele num: 116012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.519+6G>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1243+6G>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.626+6G>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.448+6G>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.924+6G>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.936+6G>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*491+6G>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.957+6G>T
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26866
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42618
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 2.75e1
  variant carriers: 0
hgvs: c.957+6G>T
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

4-1987505-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987505
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987505
    reference: chr 4
allele count: 1
allele frequency: 8.593132368611007e-6
allele num: 116372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.624C>A
  hgvsp: ENSP00000405119.1:p.Gln209Lys
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.934C>A
  hgvsp: ENSP00000387647.1:p.Gln312Lys
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.922C>A
  hgvsp: ENSP00000399165.1:p.Gln308Lys
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1241C>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*489C>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.446C>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.955C>A
  hgvsp: ENSP00000372335.3:p.Gln319Lys
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.517C>A
  hgvsp: ENSP00000445757.1:p.Gln173Lys
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43146
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln319Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

4-1987506-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987506
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987506
    reference: chr 4
allele count: 5
allele frequency: 4.297304730473048e-5
allele num: 116352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.933G>A
  hgvsp: ENST00000416258.1:c.933G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.623G>A
  hgvsp: ENST00000453740.1:c.623G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.516G>A
  hgvsp: ENST00000542778.1:c.516G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1240G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.921G>A
  hgvsp: ENST00000411638.2:c.921G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.445G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.954G>A
  hgvsp: ENST00000382882.3:c.954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*488G>A
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 7071
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr318Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

4-1987507-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987507
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987507
    reference: chr 4
allele count: 1
allele frequency: 8.592837011067574e-6
allele num: 116376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1239C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.932C>T
  hgvsp: ENSP00000387647.1:p.Thr311Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*487C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.920C>T
  hgvsp: ENSP00000399165.1:p.Thr307Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.622C>T
  hgvsp: ENSP00000405119.1:p.Thr208Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.953C>T
  hgvsp: ENSP00000372335.3:p.Thr318Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.515C>T
  hgvsp: ENSP00000445757.1:p.Thr172Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.444C>T
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7075
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr318Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

4-1987508-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987508
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987508
    reference: chr 4
allele count: 1
allele frequency: 8.589441858068062e-6
allele num: 116422
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1238A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.443A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.931A>G
  hgvsp: ENSP00000387647.1:p.Thr311Ala
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.919A>G
  hgvsp: ENSP00000399165.1:p.Thr307Ala
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.514A>G
  hgvsp: ENSP00000445757.1:p.Thr172Ala
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.621A>G
  hgvsp: ENSP00000405119.1:p.Thr208Ala
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.952A>G
  hgvsp: ENSP00000372335.3:p.Thr318Ala
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*486A>G
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr318Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

4-1987512-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987512
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987512
    reference: chr 4
allele count: 1
allele frequency: 8.587524045067326e-6
allele num: 116448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*482G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1234G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.439G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.927G>A
  hgvsp: ENST00000416258.1:c.927G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.617G>A
  hgvsp: ENST00000453740.1:c.617G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.915G>A
  hgvsp: ENST00000411638.2:c.915G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.948G>A
  hgvsp: ENST00000382882.3:c.948G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.510G>A
  hgvsp: ENST00000542778.1:c.510G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val316Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

4-1987513-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987513
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987513
    reference: chr 4
allele count: 1
allele frequency: 8.58619682997613e-6
allele num: 116466
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.438T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*481T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.947T>C
  hgvsp: ENSP00000372335.3:p.Val316Ala
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.509T>C
  hgvsp: ENSP00000445757.1:p.Val170Ala
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.914T>C
  hgvsp: ENSP00000399165.1:p.Val305Ala
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1233T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.616T>C
  hgvsp: ENSP00000405119.1:p.Val206Ala
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.926T>C
  hgvsp: ENSP00000387647.1:p.Val309Ala
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val316Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

4-1987514-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987514
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987514
    reference: chr 4
allele count: 2
allele frequency: 1.717327837884252e-5
allele num: 116460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.913G>A
  hgvsp: ENSP00000399165.1:p.Val305Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.615G>A
  hgvsp: ENSP00000405119.1:p.Val206Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*480G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.437G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.508G>A
  hgvsp: ENSP00000445757.1:p.Val170Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.925G>A
  hgvsp: ENSP00000387647.1:p.Val309Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.946G>A
  hgvsp: ENSP00000372335.3:p.Val316Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1232G>A
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26532
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7074
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val316Met
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

4-1987518-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987518
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987518
    reference: chr 4
allele count: 1
allele frequency: 8.58885167053165e-6
allele num: 116430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.909C>T
  hgvsp: ENST00000411638.2:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.942C>T
  hgvsp: ENST00000382882.3:c.942C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1228C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.504C>T
  hgvsp: ENST00000542778.1:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*476C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.921C>T
  hgvsp: ENST00000416258.1:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.611C>T
  hgvsp: ENST00000453740.1:c.611C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.433C>T
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21632
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7076
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly314Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

4-1987521-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987521
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987521
    reference: chr 4
allele count: 8
allele frequency: 6.867188572998215e-5
allele num: 116496
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.906C>T
  hgvsp: ENST00000411638.2:c.906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.918C>T
  hgvsp: ENST00000416258.1:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.939C>T
  hgvsp: ENST00000382882.3:c.939C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1225C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*473C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.430C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.501C>T
  hgvsp: ENST00000542778.1:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.608C>T
  hgvsp: ENST00000453740.1:c.608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21750
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26185
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7067
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala313Ala
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

4-1987526-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987526
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987526
    reference: chr 4
allele count: 1
allele frequency: 8.586344278060173e-6
allele num: 116464
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.425G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.901G>A
  hgvsp: ENSP00000399165.1:p.Ala301Thr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1220G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.603G>A
  hgvsp: ENSP00000405119.1:p.Ala202Thr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.496G>A
  hgvsp: ENSP00000445757.1:p.Ala166Thr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.913G>A
  hgvsp: ENSP00000387647.1:p.Ala305Thr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.934G>A
  hgvsp: ENSP00000372335.3:p.Ala312Thr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*468G>A
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7044
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala312Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD

4-1987527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987527
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987527
    reference: chr 4
allele count: 40
allele frequency: 3.437016669530847e-4
allele num: 116380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*467C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.424C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.900C>T
  hgvsp: ENST00000411638.2:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.912C>T
  hgvsp: ENST00000416258.1:c.912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1219C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.602C>T
  hgvsp: ENST00000453740.1:c.602C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.495C>T
  hgvsp: ENST00000542778.1:c.495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.933C>T
  hgvsp: ENST00000382882.3:c.933C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21764
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25939
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 9.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 42030
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr311Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-1987532-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987532
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987532
    reference: chr 4
allele count: 1
allele frequency: 8.592394012819852e-6
allele num: 116382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.895G>T
  hgvsp: ENSP00000399165.1:p.Asp299Tyr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.419G>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*462G>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.597G>T
  hgvsp: ENSP00000405119.1:p.Asp200Tyr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1214G>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.928G>T
  hgvsp: ENSP00000372335.3:p.Asp310Tyr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.907G>T
  hgvsp: ENSP00000387647.1:p.Asp303Tyr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.490G>T
  hgvsp: ENSP00000445757.1:p.Asp164Tyr
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7008
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp310Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

4-1987536-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987536
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987536
    reference: chr 4
allele count: 1
allele frequency: 8.589146754161442e-6
allele num: 116426
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.891C>G
  hgvsp: ENST00000411638.2:c.891C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.486C>G
  hgvsp: ENST00000542778.1:c.486C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1210C>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.415C>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.924C>G
  hgvsp: ENST00000382882.3:c.924C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.903C>G
  hgvsp: ENST00000416258.1:c.903C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.593C>G
  hgvsp: ENST00000453740.1:c.593C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*458C>G
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr308Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

4-1987539-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987539
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987539
    reference: chr 4
allele count: 1
allele frequency: 8.584133088399403e-6
allele num: 116494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1207C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.900C>T
  hgvsp: ENST00000416258.1:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.412C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.483C>T
  hgvsp: ENST00000542778.1:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.888C>T
  hgvsp: ENST00000411638.2:c.888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.590C>T
  hgvsp: ENST00000453740.1:c.590C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.921C>T
  hgvsp: ENST00000382882.3:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*455C>T
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala307Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

4-1987541-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987541
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987541
    reference: chr 4
allele count: 1
allele frequency: 8.59490494035136e-6
allele num: 116348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*453G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.410G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1205G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.886G>A
  hgvsp: ENSP00000399165.1:p.Ala296Thr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.588G>A
  hgvsp: ENSP00000405119.1:p.Ala197Thr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.898G>A
  hgvsp: ENSP00000387647.1:p.Ala300Thr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.481G>A
  hgvsp: ENSP00000445757.1:p.Ala161Thr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.919G>A
  hgvsp: ENSP00000372335.3:p.Ala307Thr
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25947
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6976
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala307Thr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

4-1987544-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987544
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987541
    reference: chr 4
allele count: 1
allele frequency: 8.592541673827119e-6
allele num: 116380
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.913_915delGAG
  hgvsp: ENSP00000372335.3:p.Glu305del
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.475_477delGAG
  hgvsp: ENSP00000445757.1:p.Glu159del
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.582_584delGAG
  hgvsp: ENSP00000405119.1:p.Glu195del
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.880_882delGAG
  hgvsp: ENSP00000399165.1:p.Glu294del
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.404_406delGAG
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.892_894delGAG
  hgvsp: ENSP00000387647.1:p.Glu298del
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1199_1201delGAG
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*447_*449delGAG
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu305del
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: TCTC
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

4-1987545-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987545
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987545
    reference: chr 4
allele count: 1
allele frequency: 8.597860852219967e-6
allele num: 116308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.882G>A
  hgvsp: ENST00000411638.2:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.915G>A
  hgvsp: ENST00000382882.3:c.915G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.477G>A
  hgvsp: ENST00000542778.1:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.894G>A
  hgvsp: ENST00000416258.1:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.406G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.584G>A
  hgvsp: ENST00000453740.1:c.584G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1201G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*449G>A
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu305Glu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

4-1987553-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987553
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987553
    reference: chr 4
allele count: 1
allele frequency: 8.620392400262059e-6
allele num: 116004
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.886G>A
  hgvsp: ENSP00000387647.1:p.Val296Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*441G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.469G>A
  hgvsp: ENSP00000445757.1:p.Val157Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.874G>A
  hgvsp: ENSP00000399165.1:p.Val292Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.907G>A
  hgvsp: ENSP00000372335.3:p.Val303Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1193G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.576G>A
  hgvsp: ENSP00000405119.1:p.Val193Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.398G>A
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3939
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6906
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val303Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

4-1987554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987554
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987554
    reference: chr 4
allele count: 1
allele frequency: 8.62500215625054e-6
allele num: 115942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1192G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.575G>A
  hgvsp: ENST00000453740.1:c.575G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.468G>A
  hgvsp: ENST00000542778.1:c.468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.906G>A
  hgvsp: ENST00000382882.3:c.906G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.885G>A
  hgvsp: ENST00000416258.1:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.397G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.873G>A
  hgvsp: ENST00000411638.2:c.873G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*440G>A
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr302Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

4-1987555-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987555
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987555
    reference: chr 4
allele count: 2
allele frequency: 1.725655317606861e-5
allele num: 115898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.574C>T
  hgvsp: ENSP00000405119.1:p.Thr192Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.905C>T
  hgvsp: ENSP00000372335.3:p.Thr302Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.884C>T
  hgvsp: ENSP00000387647.1:p.Thr295Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*439C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.396C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.872C>T
  hgvsp: ENSP00000399165.1:p.Thr291Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.467C>T
  hgvsp: ENSP00000445757.1:p.Thr156Met
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1191C>T
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6835
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4011
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr302Met
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

4-1987563-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987563
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987563
    reference: chr 4
allele count: 1
allele frequency: 8.759482139415918e-6
allele num: 114162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*431G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.566G>A
  hgvsp: ENST00000453740.1:c.566G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.388G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.897G>A
  hgvsp: ENST00000382882.3:c.897G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.864G>A
  hgvsp: ENST00000411638.2:c.864G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.876G>A
  hgvsp: ENST00000416258.1:c.876G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.459G>A
  hgvsp: ENST00000542778.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1183G>A
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23529
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6008
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys299Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

4-1987564-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987564
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987564
    reference: chr 4
allele count: 1
allele frequency: 8.755954048753153e-6
allele num: 114208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.565A>G
  hgvsp: ENSP00000405119.1:p.Lys189Arg
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.875A>G
  hgvsp: ENSP00000387647.1:p.Lys292Arg
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*430A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.896A>G
  hgvsp: ENSP00000372335.3:p.Lys299Arg
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.863A>G
  hgvsp: ENSP00000399165.1:p.Lys288Arg
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.458A>G
  hgvsp: ENSP00000445757.1:p.Lys153Arg
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.387A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1182A>G
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6038
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys299Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

4-1987567-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987567
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987567
    reference: chr 4
allele count: 1
allele frequency: 8.790590551873274e-6
allele num: 113758
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.893C>T
  hgvsp: ENSP00000372335.3:p.Ala298Val
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1179C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*427C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.384C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.872C>T
  hgvsp: ENSP00000387647.1:p.Ala291Val
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.860C>T
  hgvsp: ENSP00000399165.1:p.Ala287Val
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.562C>T
  hgvsp: ENSP00000405119.1:p.Ala188Val
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.455C>T
  hgvsp: ENSP00000445757.1:p.Ala152Val
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6464
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala298Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

4-1987568-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987568
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987568
    reference: chr 4
allele count: 2
allele frequency: 1.763326338805523e-5
allele num: 113422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1178G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.892G>A
  hgvsp: ENSP00000372335.3:p.Ala298Thr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.561G>A
  hgvsp: ENSP00000405119.1:p.Ala188Thr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.454G>A
  hgvsp: ENSP00000445757.1:p.Ala152Thr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.383G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.859G>A
  hgvsp: ENSP00000399165.1:p.Ala287Thr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.871G>A
  hgvsp: ENSP00000387647.1:p.Ala291Thr
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*426G>A
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23045
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala298Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

4-1987569-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987569
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987569
    reference: chr 4
allele count: 4
allele frequency: 3.527088036117381e-5
allele num: 113408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.453G>A
  hgvsp: ENST00000542778.1:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1177G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.858G>A
  hgvsp: ENST00000411638.2:c.858G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.891G>A
  hgvsp: ENST00000382882.3:c.891G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.382G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.870G>A
  hgvsp: ENST00000416258.1:c.870G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*425G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.560G>A
  hgvsp: ENST00000453740.1:c.560G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21092
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39930
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6806
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro297Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

4-1987570-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987570
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987570
    reference: chr 4
allele count: 1
allele frequency: 8.835483300936561e-6
allele num: 113180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1176C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.381C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.869C>T
  hgvsp: ENSP00000387647.1:p.Pro290Leu
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.559C>T
  hgvsp: ENSP00000405119.1:p.Pro187Leu
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*424C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.857C>T
  hgvsp: ENSP00000399165.1:p.Pro286Leu
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.452C>T
  hgvsp: ENSP00000445757.1:p.Pro151Leu
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.890C>T
  hgvsp: ENSP00000372335.3:p.Pro297Leu
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20976
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7045
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro297Leu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

4-1987571-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987571
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987571
    reference: chr 4
allele count: 2
allele frequency: 1.770538243626062e-5
allele num: 112960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.380C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*423C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.451C>T
  hgvsp: ENSP00000445757.1:p.Pro151Ser
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.856C>T
  hgvsp: ENSP00000399165.1:p.Pro286Ser
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.889C>T
  hgvsp: ENSP00000372335.3:p.Pro297Ser
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.868C>T
  hgvsp: ENSP00000387647.1:p.Pro290Ser
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.558C>T
  hgvsp: ENSP00000405119.1:p.Pro187Ser
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1175C>T
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro297Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

4-1987578-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987578
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987578
    reference: chr 4
allele count: 2
allele frequency: 1.797752808988764e-5
allele num: 111250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.849G>C
  hgvsp: ENST00000411638.2:c.849G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.551G>C
  hgvsp: ENST00000453740.1:c.551G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.373G>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*416G>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.882G>C
  hgvsp: ENST00000382882.3:c.882G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.861G>C
  hgvsp: ENST00000416258.1:c.861G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1168G>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.444G>C
  hgvsp: ENST00000542778.1:c.444G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6192
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val294Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

4-1987579-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987579
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987579
    reference: chr 4
allele count: 1
allele frequency: 9.00479054857184e-6
allele num: 111052
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1167T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.372T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.860T>C
  hgvsp: ENSP00000387647.1:p.Val287Ala
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.550T>C
  hgvsp: ENSP00000405119.1:p.Val184Ala
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*415T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.443T>C
  hgvsp: ENSP00000445757.1:p.Val148Ala
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.881T>C
  hgvsp: ENSP00000372335.3:p.Val294Ala
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.848T>C
  hgvsp: ENSP00000399165.1:p.Val283Ala
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36941
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5829
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val294Ala
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

4-1987587-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987587
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987587
    reference: chr 4
allele count: 3
allele frequency: 2.769315978953199e-5
allele num: 108330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*407G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.852G>A
  hgvsp: ENST00000416258.1:c.852G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.840G>A
  hgvsp: ENST00000411638.2:c.840G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1159G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.364G>A
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.873G>A
  hgvsp: ENST00000382882.3:c.873G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.435G>A
  hgvsp: ENST00000542778.1:c.435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.542G>A
  hgvsp: ENST00000453740.1:c.542G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19163
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8622
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12966
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala291Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

4-1987588-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987588
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987588
    reference: chr 4
allele count: 2
allele frequency: 1.85673437558023e-5
allele num: 107716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.851C>T
  hgvsp: ENSP00000387647.1:p.Ala284Val
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.839C>T
  hgvsp: ENSP00000399165.1:p.Ala280Val
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1158C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.872C>T
  hgvsp: ENSP00000372335.3:p.Ala291Val
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.434C>T
  hgvsp: ENSP00000445757.1:p.Ala145Val
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.541C>T
  hgvsp: ENSP00000405119.1:p.Ala181Val
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*406C>T
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.363C>T
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13614
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala291Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

4-1987590-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987590
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987590
    reference: chr 4
allele count: 1
allele frequency: 9.378223764419019e-6
allele num: 106630
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.837T>C
  hgvsp: ENST00000411638.2:c.837T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*404T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1156T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.870T>C
  hgvsp: ENST00000382882.3:c.870T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.432T>C
  hgvsp: ENST00000542778.1:c.432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.361T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.539T>C
  hgvsp: ENST00000453740.1:c.539T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.849T>C
  hgvsp: ENST00000416258.1:c.849T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4952
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
hgvs: c.870T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

4-1987595-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987595
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987595
    reference: chr 4
allele count: 2
allele frequency: 1.916112590775834e-5
allele num: 104378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.848-4A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1155-4A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.869-4A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.538-4A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.360-4A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.431-4A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*403-4A>G
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.836-4A>G
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17124
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12245
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
hgvs: c.869-4A>G
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

4-1987601-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987601
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987601
    reference: chr 4
allele count: 1
allele frequency: 9.995002498750625e-6
allele num: 100050
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  hgvsc: ENST00000463820.1:n.1155-10T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  hgvsc: ENST00000382882.3:c.869-10T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  hgvsc: ENST00000453740.1:c.538-10T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  hgvsc: ENST00000467661.1:n.360-10T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  hgvsc: ENST00000542778.1:c.431-10T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  hgvsc: ENST00000416258.1:c.848-10T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  hgvsc: ENST00000411638.2:c.836-10T>C
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  hgvsc: ENST00000333877.4:c.*403-10T>C
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10264
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

4-1987603-A-ACAGGAGTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1987603
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1987611
    reference: chr 4
allele count: 2
allele frequency: 2.043527127822622e-5
allele num: 97870
alternate allele: ACAGGAGTC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000330311
  ensembl transcript: ENST00000333877
  gene symbol: NELFA
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000467661
  gene symbol: NELFA
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000387647
  ensembl transcript: ENST00000416258
  gene symbol: NELFA
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000372335
  ensembl transcript: ENST00000382882
  gene symbol: NELFA
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl transcript: ENST00000463820
  gene symbol: NELFA
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000405119
  ensembl transcript: ENST00000453740
  gene symbol: NELFA
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000445757
  ensembl transcript: ENST00000542778
  gene symbol: NELFA
  variant of: http://identifiers.org/hgnc/12768
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185049
  ensembl protein: ENSP00000399165
  ensembl transcript: ENST00000411638
  gene symbol: NELFA
  variant of: http://identifiers.org/hgnc/12768
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8462
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18536
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 826
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27776
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14118
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2734
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5943
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.527853056308341e-5
allele num: 13284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 6.741e0

VQSLOD
type: SiteQuality
SIO_000300: -2.039e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.92e-2

QD
type: SiteQuality
SIO_000300: 2.346e1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 7.02234e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
all individuals: 1971
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 597
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2688
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6258
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.463486023708474e-4
allele num: 13666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3586
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.74e-2

MQ
type: SiteQuality
SIO_000300: 5.833e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.23e-1

DP
type: SiteQuality
SIO_000300: 7.12891e5

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.011e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.452e0

FS
type: SiteQuality
SIO_000300: 7.661e0

QD
type: SiteQuality
SIO_000300: 1.409e1

GenotypeQuality
all individuals: 617
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13171
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30012
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2689
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 239
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.783964365256125e-4
allele num: 3592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.681e0

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

DP
type: SiteQuality
SIO_000300: 7.13898e5

VQSLOD
type: SiteQuality
SIO_000300: -1.474e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.71e-2

FS
type: SiteQuality
SIO_000300: 7.793e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.68e-1

MQ
type: SiteQuality
SIO_000300: 5.829e1

QD
type: SiteQuality
SIO_000300: 6.84e0

GenotypeQuality
all individuals: 983
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6422
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1851
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2690
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 5.491488193300384e-4
allele num: 3642
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.65e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.1835e5

VQSLOD
type: SiteQuality
SIO_000300: -1.897e0

QD
type: SiteQuality
SIO_000300: 3.023e1

FS
type: SiteQuality
SIO_000300: 2.468e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.422e0

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13004
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14148
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 7.429420505200594e-4
allele num: 1346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1986
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8192
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.639e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.65e-2

QD
type: SiteQuality
SIO_000300: 1.188e1

DP
type: SiteQuality
SIO_000300: 7.18308e5

MQ
type: SiteQuality
SIO_000300: 5.747e1

GenotypeQuality
all individuals: 755
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2195
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29414
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2690
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14096
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 7.429420505200594e-4
allele num: 1346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1958
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.93e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

QD
type: SiteQuality
SIO_000300: 3.06e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 7.12648e5

FS
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e-1

GenotypeQuality
all individuals: 531
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2311
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2692
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.030181086519115e-4
allele num: 1988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.231527093596059e-4
allele num: 8120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14128
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.10409e5

FS
type: SiteQuality
SIO_000300: 1.906e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.88e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.389e1

GenotypeQuality
all individuals: 512
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28098
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14748
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5726
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2689
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2776
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.065040650406504e-3
allele num: 246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1354
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.775e0

DP
type: SiteQuality
SIO_000300: 7.01694e5

VQSLOD
type: SiteQuality
SIO_000300: -1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.07e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.49e0

MQRankSum
type: SiteQuality
SIO_000300: 4.68e-1

FS
type: SiteQuality
SIO_000300: 1.134e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.299e1

GenotypeQuality
all individuals: 330
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28435
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15370
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2688
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13860
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7978
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.066e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.17e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.96966e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.067e0

GenotypeQuality
all individuals: 533
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5058
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2690
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.581311306143521e-4
allele num: 7748
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.174e1

FS
type: SiteQuality
SIO_000300: 8.098000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.43e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

VQSLOD
type: SiteQuality
SIO_000300: -5.286999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

DP
type: SiteQuality
SIO_000300: 6.77418e5

GenotypeQuality
all individuals: 478
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22240
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2688
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 227
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4067
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.717391304347826e-3
allele num: 368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1188
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.279999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.58e0

QD
type: SiteQuality
SIO_000300: 9.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.33e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

DP
type: SiteQuality
SIO_000300: 6.33876e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

GenotypeQuality
all individuals: 370
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2688
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1024
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 235
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12362
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.934272300469484e-4
allele num: 3408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.109e0

VQSLOD
type: SiteQuality
SIO_000300: -1.004e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.54e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.93e-1

DP
type: SiteQuality
SIO_000300: 6.19863e5

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28217
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17030
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1376
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3007
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2687
bin: 9.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6734
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3286
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.193e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.153e1

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

MQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 5.72537e5

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

GenotypeQuality
all individuals: 14255
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1602
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30057
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 209
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2556
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2698
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 173
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.272264631043257e-3
allele num: 786
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 3.156565656565657e-3
allele num: 3168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.344e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 5.4779e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.537e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2857
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1484
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 416
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2904
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.73190162798753e-4
allele num: 5774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8658
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.784e0

QD
type: SiteQuality
SIO_000300: 1.369e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.72e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.86553e5

GenotypeQuality
all individuals: 285
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31243
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3057
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 7.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.140000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.852e0

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.65015e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
all individuals: 1458
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31376
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3253
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 279
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2691
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.262945188178833e-4
allele num: 7918
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5234
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.616e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: 4.59e-1

QD
type: SiteQuality
SIO_000300: 1.838e1

DP
type: SiteQuality
SIO_000300: 4.57853e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.12e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3204
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7997
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2691
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4006
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2750
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.35626767200754e-4
allele num: 4244
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.36974e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.112e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.42e-1

GenotypeQuality
all individuals: 1750
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3506
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6352
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2708
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 213
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5886
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.198753296571566e-4
allele num: 8342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15690
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 1.095e1

FS
type: SiteQuality
SIO_000300: 4.331e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.415e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.81e-1

DP
type: SiteQuality
SIO_000300: 1.326661e6

GenotypeQuality
all individuals: 3341
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1740
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6305
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4086
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3137
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 908
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62834
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.378364587319811e-5
allele num: 15678
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11118
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.199328376109379e-4
allele num: 8338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5884
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.326977e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.9e0

FS
type: SiteQuality
SIO_000300: 6.104e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e0

QD
type: SiteQuality
SIO_000300: 6.76e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 466
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2607
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2113
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30080
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6382
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3483
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 208
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62964
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.69548999660902e-4
allele num: 5898
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e0

FS
type: SiteQuality
SIO_000300: 2.35e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

VQSLOD
type: SiteQuality
SIO_000300: -2.786e-1

QD
type: SiteQuality
SIO_000300: 1.128e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.336088e6

GenotypeQuality
all individuals: 1652
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 32207
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6337
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.981498113885396e-5
allele num: 11134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.391137622496804e-4
allele num: 9388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.182078533698211e-5
allele num: 62852
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

QD
type: SiteQuality
SIO_000300: 1.432e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.350319e6

GenotypeQuality
all individuals: 614
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 94
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3590
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6400
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34106
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588209135378947e-5
allele num: 62964
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15712
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.663e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: -8.114e-1

DP
type: SiteQuality
SIO_000300: 1.3597e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.835e1

GenotypeQuality
all individuals: 3609
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1442
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6578
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1361
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11150
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5918
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.345982992765579e-5
allele num: 15758
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: -1.122e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.306e1

DP
type: SiteQuality
SIO_000300: 1.376233e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-3

GenotypeQuality
all individuals: 578
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6605
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1756
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37844
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.193032689095681e-4
allele num: 8382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5916
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15774
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.127000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.388841e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

QD
type: SiteQuality
SIO_000300: 1.571e1

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.13e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

GenotypeQuality
all individuals: 379
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40402
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3433
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.311935870731554e-5
allele num: 63372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.411739e6

FS
type: SiteQuality
SIO_000300: 4.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

QD
type: SiteQuality
SIO_000300: 1.313e1

GenotypeQuality
all individuals: 624
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 40415
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6810
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3431
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 488
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1406
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 9.475679090334807e-4
allele num: 9498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577784790154623e-5
allele num: 63380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.414303e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

FS
type: SiteQuality
SIO_000300: 6.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

GenotypeQuality
all individuals: 478
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6804
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3415
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 3
allele frequency: 3.57057843370626e-4
allele num: 8402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15808
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.247e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.955e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.225e0

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

FS
type: SiteQuality
SIO_000300: 3.168e0

DP
type: SiteQuality
SIO_000300: 1.417477e6

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3286
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6901
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.150896430034345e-5
allele num: 63474
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5968
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.198e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

FS
type: SiteQuality
SIO_000300: 7.019e0

DP
type: SiteQuality
SIO_000300: 1.426354e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 5.883e1

QD
type: SiteQuality
SIO_000300: 1.091e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.096e0

GenotypeQuality
all individuals: 3264
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 332
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6928
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40298
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.681444404719342e-4
allele num: 11188
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573366059347368e-5
allele num: 63558
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.89e-1

FS
type: SiteQuality
SIO_000300: 2.736e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.079e0

VQSLOD
type: SiteQuality
SIO_000300: 6.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.433277e6

QD
type: SiteQuality
SIO_000300: 1.019e1

GenotypeQuality
all individuals: 482
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3263
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40774
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63592
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 6.943567731347053e-4
allele num: 15842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.933357155619081e-5
allele num: 11194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.675e0

QD
type: SiteQuality
SIO_000300: 1.191e1

FS
type: SiteQuality
SIO_000300: 2.014e0

DP
type: SiteQuality
SIO_000300: 1.436335e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

GenotypeQuality
all individuals: 483
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1428
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1052
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41414
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 482
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.280815249819426e-5
allele num: 63686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.159058487874465e-3
allele num: 11216
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.369668246445498e-3
allele num: 844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15864
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.174493842621582e-4
allele num: 9582
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

FS
type: SiteQuality
SIO_000300: 1.819e0

DP
type: SiteQuality
SIO_000300: 1.443666e6

QD
type: SiteQuality
SIO_000300: 1.345e1

GenotypeQuality
all individuals: 107
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42149
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1447
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.136861256626619e-5
allele num: 63758
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.182033096926714e-3
allele num: 846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6034
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15874
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.24777183600713e-3
allele num: 11220
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9584
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.631e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

DP
type: SiteQuality
SIO_000300: 1.44775e6

QD
type: SiteQuality
SIO_000300: 1.145e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
all individuals: 42375
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7020
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 504
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566121656330264e-5
allele num: 63852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.450158e6

FS
type: SiteQuality
SIO_000300: 3.394e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.400000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.715e0

QD
type: SiteQuality
SIO_000300: 6.57e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 42375
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3077
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7020
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1465
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63852
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.364625206904706e-4
allele num: 8458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.394e0

DP
type: SiteQuality
SIO_000300: 1.450158e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.715e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

VQSLOD
type: SiteQuality
SIO_000300: 8.400000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 6.57e0

GenotypeQuality
all individuals: 3046
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 277
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 73
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7007
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6034
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.887742260256733e-4
allele num: 15892
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.84e0

QD
type: SiteQuality
SIO_000300: 7.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.559e0

DP
type: SiteQuality
SIO_000300: 1.452142e6

GenotypeQuality
all individuals: 222
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7073
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559332605644784e-5
allele num: 64130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6052
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

VQSLOD
type: SiteQuality
SIO_000300: -5.679e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

DP
type: SiteQuality
SIO_000300: 1.459637e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.307e0

QD
type: SiteQuality
SIO_000300: 1.008e1

GenotypeQuality
all individuals: 461
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2993
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 507
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42984
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.887308922858158e-5
allele num: 11252
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.06782464846981e-4
allele num: 9672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55938123752495e-5
allele num: 64128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15914
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.16822429906542e-3
allele num: 856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.59e-1

FS
type: SiteQuality
SIO_000300: 1.292e0

DP
type: SiteQuality
SIO_000300: 1.460806e6

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.445e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.104e1

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2995
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42753
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1466
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559332605644784e-5
allele num: 64130
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15920
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.05e-1

DP
type: SiteQuality
SIO_000300: 1.460579e6

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: -3.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 1.592e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.282e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.54e-1

GenotypeQuality
all individuals: 1211
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43063
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1473
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 614
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558263471187709e-5
allele num: 64174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6042
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.56e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: -1.004e0

QD
type: SiteQuality
SIO_000300: 1.899e1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.605e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 3.655e0

DP
type: SiteQuality
SIO_000300: 1.461051e6

GenotypeQuality
all individuals: 2990
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7092
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42802
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1460
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64188
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.885729518393461e-5
allele num: 11254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15944
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 1.462626e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

FS
type: SiteQuality
SIO_000300: 1.069e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.06e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.578e0

VQSLOD
type: SiteQuality
SIO_000300: -3.412e-1

QD
type: SiteQuality
SIO_000300: 9.75e0

GenotypeQuality
all individuals: 615
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7079
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.271165182490907e-5
allele num: 15946
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

QD
type: SiteQuality
SIO_000300: 6.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

FS
type: SiteQuality
SIO_000300: 1.0255e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.603e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.462749e6

GenotypeQuality
all individuals: 492
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 502
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15944
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.115555970963018e-5
allele num: 64194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.463181e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: -2.721e0

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-1

QD
type: SiteQuality
SIO_000300: 3.63e0

FS
type: SiteQuality
SIO_000300: 4.259e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeQuality
all individuals: 611
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42425
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3037
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557680924639397e-5
allele num: 64198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

VQSLOD
type: SiteQuality
SIO_000300: 5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.877e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

DP
type: SiteQuality
SIO_000300: 1.464315e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 3.809e0

QD
type: SiteQuality
SIO_000300: 1.241e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 238
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 3075
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15954
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6018
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.032631144155308e-4
allele num: 9684
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.089697686727482e-4
allele num: 64238
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 8.01e-1

QD
type: SiteQuality
SIO_000300: 1.429e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

DP
type: SiteQuality
SIO_000300: 1.465789e6

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42700
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3167
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6020
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556807921038702e-5
allele num: 64234
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.465785e6

VQSLOD
type: SiteQuality
SIO_000300: -2.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.028e0

MQRankSum
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.843e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

FS
type: SiteQuality
SIO_000300: 2.774e0

QD
type: SiteQuality
SIO_000300: 1.245e1

GenotypeQuality
all individuals: 306
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1159
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17813383600377e-4
allele num: 8488
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.55998576005696e-4
allele num: 11236
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.246494234964163e-4
allele num: 64180
num of homozygotes: 0

African
type: Population
allele count: 26
allele frequency: 2.68595041322314e-3
allele num: 9680
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.283775292195552e-5
allele num: 15914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.464818e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.108e0

QD
type: SiteQuality
SIO_000300: 1.124e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

GenotypeQuality
all individuals: 69
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42119
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557535356052582e-5
allele num: 64204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9678
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6010
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.464447e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 7.319e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e0

VQSLOD
type: SiteQuality
SIO_000300: 9.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

GenotypeQuality
all individuals: 451
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 266
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7011
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42617
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6008
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556614053111671e-5
allele num: 64242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11226
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

QD
type: SiteQuality
SIO_000300: 1.245e1

DP
type: SiteQuality
SIO_000300: 1.465873e6

FS
type: SiteQuality
SIO_000300: 4.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.909e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 399
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3331
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7029
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43138
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6020
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: 1
allele frequency: 6.286145335680161e-5
allele num: 15908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.82e-1

FS
type: SiteQuality
SIO_000300: 5.301e0

DP
type: SiteQuality
SIO_000300: 1.466691e6

VQSLOD
type: SiteQuality
SIO_000300: 2.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.059e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.674e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

GenotypeQuality
all individuals: 220
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3401
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42756
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1120
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.297229219143577e-5
allele num: 15880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11232
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64200
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.73e-1

DP
type: SiteQuality
SIO_000300: 1.466406e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

QD
type: SiteQuality
SIO_000300: 6.65e0

VQSLOD
type: SiteQuality
SIO_000300: -2.606e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.73e-1

GenotypeQuality
all individuals: 3502
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7005
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 180
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43266
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556468683850081e-5
allele num: 64248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15862
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

MQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

FS
type: SiteQuality
SIO_000300: 3.699e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

DP
type: SiteQuality
SIO_000300: 1.465409e6

GenotypeQuality
all individuals: 534
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43139
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6995
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3528
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 95
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557195801800118e-5
allele num: 64218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5988
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15854
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.55e-1

DP
type: SiteQuality
SIO_000300: 1.465377e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.719e0

QD
type: SiteQuality
SIO_000300: 1.034e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.409e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.75e-1

FS
type: SiteQuality
SIO_000300: 9.673999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43202
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64066
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.325910931174089e-5
allele num: 15808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.62e-1

FS
type: SiteQuality
SIO_000300: 1.403e0

DP
type: SiteQuality
SIO_000300: 1.462071e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.243e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.067e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.681e0

GenotypeQuality
all individuals: 1334
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43421
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3929
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 526
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6861
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64020
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.180080245456691e-4
allele num: 8474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15796
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

DP
type: SiteQuality
SIO_000300: 1.463329e6

QD
type: SiteQuality
SIO_000300: 1.374e1

VQSLOD
type: SiteQuality
SIO_000300: -6.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.389e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

GenotypeQuality
all individuals: 212
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43680
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 508
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562207086171343e-5
allele num: 64012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.180358829084042e-4
allele num: 8472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15784
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

DP
type: SiteQuality
SIO_000300: 1.46278e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

QD
type: SiteQuality
SIO_000300: 9.85e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.827e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

GenotypeQuality
all individuals: 1283
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40281
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6635
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.584183511818009e-5
allele num: 63124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5834
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11082
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.161e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.291e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.33e-1

FS
type: SiteQuality
SIO_000300: 4.189e0

MQRankSum
type: SiteQuality
SIO_000300: -1.477e0

VQSLOD
type: SiteQuality
SIO_000300: -1.124e-1

DP
type: SiteQuality
SIO_000300: 1.429539e6

GenotypeQuality
all individuals: 739
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40559
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583481124904991e-5
allele num: 63152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.39e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e0

QD
type: SiteQuality
SIO_000300: 1.399e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 1.428667e6

GenotypeQuality
all individuals: 432
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 250
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40172
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.589218740067383e-5
allele num: 62924
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5792
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

DP
type: SiteQuality
SIO_000300: 1.421049e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.969e0

VQSLOD
type: SiteQuality
SIO_000300: -1.099e-1

QD
type: SiteQuality
SIO_000300: 1.505e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.293e0

FS
type: SiteQuality
SIO_000300: 6.181e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
all individuals: 6745
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6483
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 818
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.18582943069228e-5
allele num: 62778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15354
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.475e0

DP
type: SiteQuality
SIO_000300: 1.416477e6

QD
type: SiteQuality
SIO_000300: 1.045e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

FS
type: SiteQuality
SIO_000300: 1.823e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.59e-1

GenotypeQuality
all individuals: 414
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 9.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.778744146038421e-5
allele num: 62778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9386
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.514657980456026e-5
allele num: 15350
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.66e-1

FS
type: SiteQuality
SIO_000300: 1.788e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

DP
type: SiteQuality
SIO_000300: 1.415036e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.52e-1

QD
type: SiteQuality
SIO_000300: 1.026e1

GenotypeQuality
all individuals: 732
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6447
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 189
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9360
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.20889748549323e-4
allele num: 8272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5732
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62654
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.411029e6

VQSLOD
type: SiteQuality
SIO_000300: -1.784e0

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.371e0

FS
type: SiteQuality
SIO_000300: 1.2324e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

QD
type: SiteQuality
SIO_000300: 1.288e1

MQ
type: SiteQuality
SIO_000300: 5.833e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7256
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6379
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 39453
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.11410864017499e-5
allele num: 10972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15284
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.069976460517869e-4
allele num: 9346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.391e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 8.715999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

QD
type: SiteQuality
SIO_000300: 1.305e1

VQSLOD
type: SiteQuality
SIO_000300: -1.541e-1

DP
type: SiteQuality
SIO_000300: 1.408123e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.94e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeQuality
all individuals: 9352
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5847
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37327
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 408
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61650
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.175331738090059e-4
allele num: 9194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15026
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.77e-1

DP
type: SiteQuality
SIO_000300: 1.373518e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.009e1

GenotypeQuality
all individuals: 386
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 915
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9615
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 164
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.624642578632701e-5
allele num: 61552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10836
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 1.682e1

DP
type: SiteQuality
SIO_000300: 1.368449e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e0

VQSLOD
type: SiteQuality
SIO_000300: 3.46e-1

GenotypeQuality
all individuals: 228
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34491
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 545
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5274
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.326237360298031e-5
allele num: 60128
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.872852233676975e-5
allele num: 14550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8966
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.045e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

DP
type: SiteQuality
SIO_000300: 1.320076e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 6.57e0

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

GenotypeQuality
all individuals: 566
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5162
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33815
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 304
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14422
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.243158366980709e-4
allele num: 8916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.571e0

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

FS
type: SiteQuality
SIO_000300: 6.03e-1

DP
type: SiteQuality
SIO_000300: 1.309485e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

GenotypeQuality
all individuals: 637
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15196
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1624
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 495
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4997
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.904761904761905e-4
allele num: 5250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7768
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8852
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

FS
type: SiteQuality
SIO_000300: 2.0e0

DP
type: SiteQuality
SIO_000300: 1.282714e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.759e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.4e0

GenotypeQuality
all individuals: 221
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17902
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1621
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4763
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1948
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29342
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.160246312473149e-5
allele num: 13966
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.314060446780552e-4
allele num: 7610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5106
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

FS
type: SiteQuality
SIO_000300: 4.046e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.773e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.61e-1

QD
type: SiteQuality
SIO_000300: 6.33e0

DP
type: SiteQuality
SIO_000300: 1.236971e6

GenotypeQuality
all individuals: 23387
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23246
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 119
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3780
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.796622349982034e-5
allele num: 55660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13426
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

QD
type: SiteQuality
SIO_000300: 1.107e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

FS
type: SiteQuality
SIO_000300: 2.291e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.138644e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0