19-5653254-A-AACATCACTTCATAATTTACCACCTACGTAGCATGACTGTATATTTGGAATCATTTCTTCAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653254
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653315
    reference: chr 19
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: AACATCACTTCATAATTTACCACCTACGTAGCATGACTGTATATTTGGAATCATTTCTTCAC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsp: ENSP00000438880.1:p.Lys318ThrfsTer10
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsp: ENSP00000464840.1:p.Lys475ThrfsTer10
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsp: ENSP00000415895.1:p.Lys406ThrfsTer10
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsp: ENSP00000404545.1:p.Lys305ThrfsTer10
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsp: ENSP00000292123.4:p.Lys475ThrfsTer10
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592707
  gene symbol: SAFB
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsp: ENSP00000467423.1:p.Lys475ThrfsTer10
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: stop gained
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6887
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys475ThrfsTer10
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

19-5653266-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653266
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653266
    reference: chr 19
allele count: 6
allele frequency: 4.943642475776152e-5
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1227C>G
  hgvsp: ENST00000454510.1:c.1227C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.963C>G
  hgvsp: ENST00000538656.1:c.963C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1434C>G
  hgvsp: ENST00000292123.5:c.1434C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592707
  gene symbol: SAFB
  hgvsc: ENST00000592707.1:n.931C>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*841C>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1434C>G
  hgvsp: ENST00000592224.1:c.1434C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.924C>G
  hgvsp: ENST00000433404.1:c.924C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1434C>G
  hgvsp: ENST00000588852.1:c.1434C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.528C>G
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser478Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-5653266-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653266
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653266
    reference: chr 19
allele count: 5
allele frequency: 4.119702063146793e-5
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592707
  gene symbol: SAFB
  hgvsc: ENST00000592707.1:n.931C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1434C>T
  hgvsp: ENST00000592224.1:c.1434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*841C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1434C>T
  hgvsp: ENST00000588852.1:c.1434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.528C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1227C>T
  hgvsp: ENST00000454510.1:c.1227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.963C>T
  hgvsp: ENST00000538656.1:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.924C>T
  hgvsp: ENST00000433404.1:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1434C>T
  hgvsp: ENST00000292123.5:c.1434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47455
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser478Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-5653279-A-AGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653279
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653281
    reference: chr 19
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: AGT
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1443+6_1443+7dupTG
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1236+6_1236+7dupTG
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1443+6_1443+7dupTG
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.972+6_972+7dupTG
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*850+6_*850+7dupTG
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1443+6_1443+7dupTG
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.537+6_537+7dupTG
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.933+6_933+7dupTG
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47524
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1443+6_1443+7dupTG
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

19-5653285-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653285
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653285
    reference: chr 19
allele count: 5
allele frequency: 4.119430529923544e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*850+10C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1236+10C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1443+10C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.537+10C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1443+10C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1443+10C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.933+10C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.972+10C>T
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6944
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47491
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

19-5653286-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653286
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653286
    reference: chr 19
allele count: 4
allele frequency: 3.295598727898891e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1443+11G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1443+11G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.933+11G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.537+11G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.972+11G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*850+11G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1236+11G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1443+11G>A
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

19-5653286-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653286
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653286
    reference: chr 19
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1443+11G>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1236+11G>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.933+11G>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.972+11G>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1443+11G>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1443+11G>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.537+11G>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*850+11G>C
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6865
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

19-5653293-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653293
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653292
    reference: chr 19
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*850+21delC
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1236+21delC
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1443+21delC
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.537+21delC
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1443+21delC
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.933+21delC
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.972+21delC
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1443+21delC
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TC
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

19-5653297-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653297
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653297
    reference: chr 19
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1236+22A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1443+22A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.972+22A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.537+22A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.933+22A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1443+22A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*850+22A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1443+22A>G
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

19-5653301-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653301
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653301
    reference: chr 19
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1443+26T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.972+26T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1236+26T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*850+26T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.933+26T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1443+26T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1443+26T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.537+26T>G
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6935
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-5653305-G-GCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653305
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653307
    reference: chr 19
allele count: 3
allele frequency: 2.471861971227527e-5
allele num: 121366
alternate allele: GCC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.537+32_537+33dupCC
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1443+32_1443+33dupCC
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1443+32_1443+33dupCC
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.972+32_972+33dupCC
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*850+32_*850+33dupCC
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.933+32_933+33dupCC
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1236+32_1236+33dupCC
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1443+32_1443+33dupCC
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-5653308-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653308
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653308
    reference: chr 19
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.933+33C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1443+33C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.972+33C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1236+33C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.537+33C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1443+33C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1443+33C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*850+33C>T
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS

19-5653310-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653310
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653310
    reference: chr 19
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1443+35C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.537+35C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*850+35C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.933+35C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1443+35C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1236+35C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1443+35C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.972+35C>T
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

19-5653319-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653319
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653319
    reference: chr 19
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*851-30A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1444-30A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.538-30A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1237-30A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1444-30A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.973-30A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.934-30A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1444-30A>G
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

19-5653319-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653319
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653319
    reference: chr 19
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*851-30A>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1444-30A>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1444-30A>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1444-30A>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.973-30A>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1237-30A>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.934-30A>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.538-30A>T
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

19-5653323-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653323
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653323
    reference: chr 19
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.538-26G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1444-26G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1237-26G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.973-26G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*851-26G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1444-26G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1444-26G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.934-26G>A
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

19-5653325-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653325
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653325
    reference: chr 19
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1444-24G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1444-24G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.973-24G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*851-24G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.538-24G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1237-24G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1444-24G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.934-24G>A
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-5653326-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653326
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653326
    reference: chr 19
allele count: 3
allele frequency: 2.472839974282464e-5
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*851-23T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1444-23T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1444-23T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.973-23T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1444-23T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.934-23T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1237-23T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.538-23T>C
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

19-5653341-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653341
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653341
    reference: chr 19
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.973-8T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*851-8T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1444-8T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.538-8T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1237-8T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1444-8T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1444-8T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.934-8T>C
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6791
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1444-8T>C
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

19-5653342-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653342
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653342
    reference: chr 19
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1444-7T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1444-7T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.538-7T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1444-7T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.973-7T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*851-7T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1237-7T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.934-7T>G
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1444-7T>G
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

19-5653364-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653364
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653364
    reference: chr 19
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1252G>T
  hgvsp: ENSP00000415895.1:p.Val418Leu
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.949G>T
  hgvsp: ENSP00000404545.1:p.Val317Leu
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*866G>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.553G>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1459G>T
  hgvsp: ENSP00000467423.1:p.Val487Leu
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.988G>T
  hgvsp: ENSP00000438880.1:p.Val330Leu
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1459G>T
  hgvsp: ENSP00000464840.1:p.Val487Leu
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1459G>T
  hgvsp: ENSP00000292123.4:p.Val487Leu
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val487Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

19-5653369-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653369
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653369
    reference: chr 19
allele count: 27
allele frequency: 2.23173695260452e-4
allele num: 120982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1257A>G
  hgvsp: ENST00000454510.1:c.1257A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.954A>G
  hgvsp: ENST00000433404.1:c.954A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1464A>G
  hgvsp: ENST00000592224.1:c.1464A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1464A>G
  hgvsp: ENST00000292123.5:c.1464A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.558A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*871A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1464A>G
  hgvsp: ENST00000588852.1:c.1464A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.993A>G
  hgvsp: ENST00000538656.1:c.993A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28145
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly488Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/19-5653370-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653370
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653370
    reference: chr 19
allele count: 2
allele frequency: 1.653302471687195e-5
allele num: 120970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1465A>C
  hgvsp: ENSP00000292123.4:p.Lys489Gln
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.559A>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.994A>C
  hgvsp: ENSP00000438880.1:p.Lys332Gln
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*872A>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1465A>C
  hgvsp: ENSP00000467423.1:p.Lys489Gln
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.955A>C
  hgvsp: ENSP00000404545.1:p.Lys319Gln
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1258A>C
  hgvsp: ENSP00000415895.1:p.Lys420Gln
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1465A>C
  hgvsp: ENSP00000464840.1:p.Lys489Gln
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28144
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6699
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys489Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

19-5653371-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653371
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653371
    reference: chr 19
allele count: 1
allele frequency: 8.267059076404159e-6
allele num: 120962
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1466A>G
  hgvsp: ENSP00000292123.4:p.Lys489Arg
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1466A>G
  hgvsp: ENSP00000467423.1:p.Lys489Arg
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1466A>G
  hgvsp: ENSP00000464840.1:p.Lys489Arg
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.995A>G
  hgvsp: ENSP00000438880.1:p.Lys332Arg
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.560A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1259A>G
  hgvsp: ENSP00000415895.1:p.Lys420Arg
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*873A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.956A>G
  hgvsp: ENSP00000404545.1:p.Lys319Arg
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 28137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys489Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

19-5653373-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653373
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653373
    reference: chr 19
allele count: 2
allele frequency: 1.654232353476369e-5
allele num: 120902
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1468A>G
  hgvsp: ENSP00000464840.1:p.Lys490Glu
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*875A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1468A>G
  hgvsp: ENSP00000292123.4:p.Lys490Glu
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.958A>G
  hgvsp: ENSP00000404545.1:p.Lys320Glu
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1468A>G
  hgvsp: ENSP00000467423.1:p.Lys490Glu
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.562A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.997A>G
  hgvsp: ENSP00000438880.1:p.Lys333Glu
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1261A>G
  hgvsp: ENSP00000415895.1:p.Lys421Glu
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys490Glu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

19-5653375-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653375
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653375
    reference: chr 19
allele count: 1
allele frequency: 8.273899157717065e-6
allele num: 120862
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1470A>G
  hgvsp: ENST00000588852.1:c.1470A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*877A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.960A>G
  hgvsp: ENST00000433404.1:c.960A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1263A>G
  hgvsp: ENST00000454510.1:c.1263A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1470A>G
  hgvsp: ENST00000292123.5:c.1470A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1470A>G
  hgvsp: ENST00000592224.1:c.1470A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.564A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.999A>G
  hgvsp: ENST00000538656.1:c.999A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6667
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys490Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

19-5653378-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653378
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653378
    reference: chr 19
allele count: 1
allele frequency: 8.275816409288777e-6
allele num: 120834
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*880C>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1473C>G
  hgvsp: ENST00000588852.1:c.1473C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1266C>G
  hgvsp: ENST00000454510.1:c.1266C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1002C>G
  hgvsp: ENST00000538656.1:c.1002C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.963C>G
  hgvsp: ENST00000433404.1:c.963C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1473C>G
  hgvsp: ENST00000592224.1:c.1473C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.567C>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1473C>G
  hgvsp: ENST00000292123.5:c.1473C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47271
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr491Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

19-5653384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653384
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653384
    reference: chr 19
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*886C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.573C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.969C>T
  hgvsp: ENST00000433404.1:c.969C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1479C>T
  hgvsp: ENST00000292123.5:c.1479C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1272C>T
  hgvsp: ENST00000454510.1:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1479C>T
  hgvsp: ENST00000588852.1:c.1479C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1479C>T
  hgvsp: ENST00000592224.1:c.1479C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1008C>T
  hgvsp: ENST00000538656.1:c.1008C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47087
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp493Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

19-5653395-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653395
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653395
    reference: chr 19
allele count: 2
allele frequency: 1.66220641279234e-5
allele num: 120322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*897G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1490G>A
  hgvsp: ENSP00000464840.1:p.Ser497Asn
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1490G>A
  hgvsp: ENSP00000467423.1:p.Ser497Asn
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1019G>A
  hgvsp: ENSP00000438880.1:p.Ser340Asn
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.584G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1490G>A
  hgvsp: ENSP00000292123.4:p.Ser497Asn
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.980G>A
  hgvsp: ENSP00000404545.1:p.Ser327Asn
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1283G>A
  hgvsp: ENSP00000415895.1:p.Ser428Asn
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27753
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6722
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6499
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser497Asn
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

19-5653399-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653399
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653399
    reference: chr 19
allele count: 10
allele frequency: 8.324176738920521e-5
allele num: 120132
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1494C>T
  hgvsp: ENST00000588852.1:c.1494C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1494C>T
  hgvsp: ENST00000292123.5:c.1494C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.984C>T
  hgvsp: ENST00000433404.1:c.984C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*901C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.588C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1287C>T
  hgvsp: ENST00000454510.1:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1023C>T
  hgvsp: ENST00000538656.1:c.1023C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1494C>T
  hgvsp: ENST00000592224.1:c.1494C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22000
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp498Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-5653404-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653404
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653404
    reference: chr 19
allele count: 1
allele frequency: 8.35421888053467e-6
allele num: 119700
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1499A>G
  hgvsp: ENSP00000464840.1:p.Lys500Arg
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1292A>G
  hgvsp: ENSP00000415895.1:p.Lys431Arg
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1499A>G
  hgvsp: ENSP00000467423.1:p.Lys500Arg
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1028A>G
  hgvsp: ENSP00000438880.1:p.Lys343Arg
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.593A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1499A>G
  hgvsp: ENSP00000292123.4:p.Lys500Arg
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.989A>G
  hgvsp: ENSP00000404545.1:p.Lys330Arg
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*906A>G
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46328
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys500Arg
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

19-5653405-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653405
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653405
    reference: chr 19
allele count: 1
allele frequency: 8.361623492817366e-6
allele num: 119594
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1500A>G
  hgvsp: ENST00000588852.1:c.1500A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1500A>G
  hgvsp: ENST00000292123.5:c.1500A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1293A>G
  hgvsp: ENST00000454510.1:c.1293A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1500A>G
  hgvsp: ENST00000592224.1:c.1500A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.594A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.990A>G
  hgvsp: ENST00000433404.1:c.990A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*907A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1029A>G
  hgvsp: ENST00000538656.1:c.1029A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys500Lys
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

19-5653416-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653416
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653416
    reference: chr 19
allele count: 2
allele frequency: 1.698023500645249e-5
allele num: 117784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1304C>T
  hgvsp: ENSP00000415895.1:p.Ser435Leu
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1511C>T
  hgvsp: ENSP00000464840.1:p.Ser504Leu
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1511C>T
  hgvsp: ENSP00000467423.1:p.Ser504Leu
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*918C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1511C>T
  hgvsp: ENSP00000292123.4:p.Ser504Leu
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1040C>T
  hgvsp: ENSP00000438880.1:p.Ser347Leu
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1001C>T
  hgvsp: ENSP00000404545.1:p.Ser334Leu
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.605C>T
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5940
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser504Leu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD

19-5653420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653420
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653420
    reference: chr 19
allele count: 1
allele frequency: 8.558712769599453e-6
allele num: 116840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1515C>T
  hgvsp: ENST00000292123.5:c.1515C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1044C>T
  hgvsp: ENST00000538656.1:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*922C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1005C>T
  hgvsp: ENST00000433404.1:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1515C>T
  hgvsp: ENST00000592224.1:c.1515C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.609C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1308C>T
  hgvsp: ENST00000454510.1:c.1308C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1515C>T
  hgvsp: ENST00000588852.1:c.1515C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser505Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

19-5653423-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653423
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653423
    reference: chr 19
allele count: 1
allele frequency: 8.593427746459508e-6
allele num: 116368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*925C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1008C>T
  hgvsp: ENST00000433404.1:c.1008C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1047C>T
  hgvsp: ENST00000538656.1:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1518C>T
  hgvsp: ENST00000292123.5:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1518C>T
  hgvsp: ENST00000592224.1:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.612C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1518C>T
  hgvsp: ENST00000588852.1:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1311C>T
  hgvsp: ENST00000454510.1:c.1311C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5056
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn506Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

19-5653424-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653424
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653424
    reference: chr 19
allele count: 2
allele frequency: 1.724494723046147e-5
allele num: 115976
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1312A>G
  hgvsp: ENSP00000415895.1:p.Ser438Gly
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1519A>G
  hgvsp: ENSP00000467423.1:p.Ser507Gly
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1519A>G
  hgvsp: ENSP00000292123.4:p.Ser507Gly
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1519A>G
  hgvsp: ENSP00000464840.1:p.Ser507Gly
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1048A>G
  hgvsp: ENSP00000438880.1:p.Ser350Gly
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.613A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*926A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1009A>G
  hgvsp: ENSP00000404545.1:p.Ser337Gly
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40935
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser507Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

19-5653427-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653427
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653427
    reference: chr 19
allele count: 1
allele frequency: 8.655760408551892e-6
allele num: 115530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1315G>A
  hgvsp: ENSP00000415895.1:p.Asp439Asn
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1522G>A
  hgvsp: ENSP00000467423.1:p.Asp508Asn
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1051G>A
  hgvsp: ENSP00000438880.1:p.Asp351Asn
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160633
  ensembl transcript: ENST00000592396
  gene symbol: SAFB
  hgvsc: ENST00000592396.1:n.616G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*929G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1522G>A
  hgvsp: ENSP00000464840.1:p.Asp508Asn
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1012G>A
  hgvsp: ENSP00000404545.1:p.Asp338Asn
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1522G>A
  hgvsp: ENSP00000292123.4:p.Asp508Asn
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp508Asn
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-5653435-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653435
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653435
    reference: chr 19
allele count: 1
allele frequency: 8.852221022254483e-6
allele num: 112966
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1526+4C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1319+4C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1526+4C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1016+4C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*933+4C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1526+4C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1055+4C>T
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18088
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1526+4C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-5653441-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653441
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653441
    reference: chr 19
allele count: 1
allele frequency: 9.01599437401951e-6
allele num: 110914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1055+10C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1526+10C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*933+10C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1526+10C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1526+10C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1016+10C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1319+10C>T
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19856
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33779
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12583
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/19-5653449-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653449
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653449
    reference: chr 19
allele count: 6
allele frequency: 5.563591854901524e-5
allele num: 107844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1526+18C>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*933+18C>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1055+18C>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1526+18C>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1319+18C>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1526+18C>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1016+18C>A
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15613
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13034
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

19-5653461-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653461
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653461
    reference: chr 19
allele count: 2
allele frequency: 1.934947079197384e-5
allele num: 103362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1055+30G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1319+30G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1016+30G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1526+30G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*933+30G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1526+30G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1526+30G>A
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8520
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7848
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21565
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-5653465-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653465
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653465
    reference: chr 19
allele count: 1
allele frequency: 9.856100926473488e-6
allele num: 101460
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1055+34G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1016+34G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*933+34G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1526+34G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1526+34G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1526+34G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1319+34G>A
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21873
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19870
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

19-5653466-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653466
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653466
    reference: chr 19
allele count: 1
allele frequency: 9.986617931971158e-6
allele num: 100134
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1526+35G>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1016+35G>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1055+35G>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1319+35G>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1526+35G>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1526+35G>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*933+35G>T
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11054
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1056
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genotype quality: GenotypeQuality
  all individuals: 411
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genotype quality: GenotypeQuality
  all individuals: 19271
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

19-5653472-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653472
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653472
    reference: chr 19
allele count: 1
allele frequency: 1.032290032207449e-5
allele num: 96872
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1055+41T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*933+41T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1016+41T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1319+41T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1526+41T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1526+41T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1526+41T>G
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1864
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 290
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4827
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

19-5653473-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653473
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653473
    reference: chr 19
allele count: 1
allele frequency: 1.0563454672216e-5
allele num: 94666
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1526+42T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1055+42T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1016+42T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1526+42T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*933+42T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1319+42T>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1526+42T>G
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7738
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

19-5653473-T-TTTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653473
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653476
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 94666
alternate allele: TTTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1055+54_1055+56dupGTT
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1526+54_1526+56dupGTT
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1016+54_1016+56dupGTT
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1319+54_1319+56dupGTT
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1526+54_1526+56dupGTT
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*933+54_*933+56dupGTT
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1526+54_1526+56dupGTT
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12705
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10496
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5553
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7738
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

19-5653473-TTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653473
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653470
    reference: chr 19
allele count: 33
allele frequency: 3.48594004183128e-4
allele num: 94666
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1055+54_1055+56delGTT
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1526+54_1526+56delGTT
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*933+54_*933+56delGTT
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1319+54_1319+56delGTT
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1016+54_1016+56delGTT
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1526+54_1526+56delGTT
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1526+54_1526+56delGTT
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12705
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10496
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19762
  bin: 1.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 7257
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5299
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 9.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7738
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: TTTG
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-5653480-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653480
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653480
    reference: chr 19
allele count: 1
allele frequency: 1.138252100075125e-5
allele num: 87854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1526+49T>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*933+49T>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1016+49T>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1526+49T>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1319+49T>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1055+49T>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1526+49T>A
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18181
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5269
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5587
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2889
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

19-5653483-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5653483
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5653483
    reference: chr 19
allele count: 1
allele frequency: 1.161494146069504e-5
allele num: 86096
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1055+52T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1526+52T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1526+52T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*933+52T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1319+52T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1526+52T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1016+52T>C
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11427
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7061
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7766
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5591
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

http://identifiers.org/exac.variant/19-5654023-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654023
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654023
    reference: chr 19
allele count: 3
allele frequency: 2.579136505098093e-5
allele num: 116318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1527-49A>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1056-49A>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1320-49A>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*934-49A>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1527-49A>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1527-49A>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1017-49A>C
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13157
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7609
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4384
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5971
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3016
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3907
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

19-5654042-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654042
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654042
    reference: chr 19
allele count: 1
allele frequency: 8.518758305789349e-6
allele num: 117388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1320-30A>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1527-30A>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1527-30A>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1017-30A>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1056-30A>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1527-30A>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*934-30A>T
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20576
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3533
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4395
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7041
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

19-5654043-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654043
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654043
    reference: chr 19
allele count: 2
allele frequency: 1.703896812009065e-5
allele num: 117378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1320-29C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1017-29C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1527-29C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1056-29C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1527-29C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1527-29C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*934-29C>T
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3565
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

19-5654044-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654044
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654044
    reference: chr 19
allele count: 1
allele frequency: 8.505281779985371e-6
allele num: 117574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1527-28G>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1527-28G>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1017-28G>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*934-28G>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1056-28G>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1527-28G>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1320-28G>T
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8663
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7081
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7344
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

19-5654048-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654048
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654048
    reference: chr 19
allele count: 2
allele frequency: 1.69098872110523e-5
allele num: 118274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1527-24A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1056-24A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1527-24A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1320-24A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1527-24A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1017-24A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*934-24A>G
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4759
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7803
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7163
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

19-5654059-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654059
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654059
    reference: chr 19
allele count: 1
allele frequency: 8.34752412434472e-6
allele num: 119796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1527-13C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1527-13C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1056-13C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1527-13C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*934-13C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1320-13C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1017-13C>T
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7252
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25306
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

19-5654061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654061
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654061
    reference: chr 19
allele count: 36
allele frequency: 2.999300163295231e-4
allele num: 120028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1527-11G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1056-11G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1527-11G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*934-11G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1527-11G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1017-11G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1320-11G>A
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25096
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9749
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13953
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7314
  bin: 9.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

19-5654061-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654061
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654061
    reference: chr 19
allele count: 1
allele frequency: 8.331389342486753e-6
allele num: 120028
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1527-11G>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1320-11G>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1527-11G>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1527-11G>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*934-11G>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1056-11G>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1017-11G>C
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9749
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

19-5654061-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654061
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654060
    reference: chr 19
allele count: 20
allele frequency: 1.666277868497351e-4
allele num: 120028
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1056-5delT
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*934-5delT
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1320-5delT
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1017-5delT
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1527-5delT
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1527-5delT
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1527-5delT
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9749
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13953
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25096
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: GT
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

19-5654067-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654067
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654067
    reference: chr 19
allele count: 1
allele frequency: 8.304406317992327e-6
allele num: 120418
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1527-5T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1056-5T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*934-5T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1527-5T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1320-5T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1017-5T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1527-5T>C
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5089
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4075
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1527-5T>C
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-5654069-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654069
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654069
    reference: chr 19
allele count: 2
allele frequency: 1.659090154959021e-5
allele num: 120548
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1320-3T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1056-3T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*934-3T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1527-3T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1527-3T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1527-3T>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1017-3T>C
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4081
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1527-3T>C
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

19-5654074-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654074
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654074
    reference: chr 19
allele count: 1
allele frequency: 8.276638360563474e-6
allele num: 120822
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1529C>G
  hgvsp: ENSP00000467423.1:p.Ser510Cys
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*936C>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1322C>G
  hgvsp: ENSP00000415895.1:p.Ser441Cys
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1019C>G
  hgvsp: ENSP00000404545.1:p.Ser340Cys
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1529C>G
  hgvsp: ENSP00000292123.4:p.Ser510Cys
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1058C>G
  hgvsp: ENSP00000438880.1:p.Ser353Cys
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1529C>G
  hgvsp: ENSP00000464840.1:p.Ser510Cys
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7327
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5122
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser510Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

19-5654076-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654076
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654076
    reference: chr 19
allele count: 13
allele frequency: 1.075428930692742e-4
allele num: 120882
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1531A>G
  hgvsp: ENSP00000467423.1:p.Thr511Ala
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1324A>G
  hgvsp: ENSP00000415895.1:p.Thr442Ala
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1021A>G
  hgvsp: ENSP00000404545.1:p.Thr341Ala
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1531A>G
  hgvsp: ENSP00000292123.4:p.Thr511Ala
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*938A>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1531A>G
  hgvsp: ENSP00000464840.1:p.Thr511Ala
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1060A>G
  hgvsp: ENSP00000438880.1:p.Thr354Ala
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14329
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5135
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7347
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr511Ala
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: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

19-5654081-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654081
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654081
    reference: chr 19
allele count: 2
allele frequency: 1.652155236506022e-5
allele num: 121054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1329C>T
  hgvsp: ENST00000454510.1:c.1329C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*943C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1536C>T
  hgvsp: ENST00000292123.5:c.1536C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1536C>T
  hgvsp: ENST00000592224.1:c.1536C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1026C>T
  hgvsp: ENST00000433404.1:c.1026C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1065C>T
  hgvsp: ENST00000538656.1:c.1065C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1536C>T
  hgvsp: ENST00000588852.1:c.1536C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8602
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7354
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn512Asn
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

19-5654090-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654090
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654090
    reference: chr 19
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1035G>A
  hgvsp: ENST00000433404.1:c.1035G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1545G>A
  hgvsp: ENST00000592224.1:c.1545G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1074G>A
  hgvsp: ENST00000538656.1:c.1074G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*952G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1545G>A
  hgvsp: ENST00000292123.5:c.1545G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1338G>A
  hgvsp: ENST00000454510.1:c.1338G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1545G>A
  hgvsp: ENST00000588852.1:c.1545G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8658
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg515Arg
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

19-5654092-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654092
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654092
    reference: chr 19
allele count: 5
allele frequency: 4.12275928033114e-5
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1076A>T
  hgvsp: ENSP00000438880.1:p.Asp359Val
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1547A>T
  hgvsp: ENSP00000292123.4:p.Asp516Val
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*954A>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1547A>T
  hgvsp: ENSP00000467423.1:p.Asp516Val
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1547A>T
  hgvsp: ENSP00000464840.1:p.Asp516Val
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1037A>T
  hgvsp: ENSP00000404545.1:p.Asp346Val
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1340A>T
  hgvsp: ENSP00000415895.1:p.Asp447Val
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp516Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ

19-5654095-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654095
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654095
    reference: chr 19
allele count: 14
allele frequency: 1.154125173118776e-4
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1040A>T
  hgvsp: ENSP00000404545.1:p.Asp347Val
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1079A>T
  hgvsp: ENSP00000438880.1:p.Asp360Val
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1343A>T
  hgvsp: ENSP00000415895.1:p.Asp448Val
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1550A>T
  hgvsp: ENSP00000467423.1:p.Asp517Val
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1550A>T
  hgvsp: ENSP00000464840.1:p.Asp517Val
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1550A>T
  hgvsp: ENSP00000292123.4:p.Asp517Val
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*957A>T
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14527
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp517Val
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-5654105-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654105
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654105
    reference: chr 19
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1050C>T
  hgvsp: ENST00000433404.1:c.1050C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1560C>T
  hgvsp: ENST00000588852.1:c.1560C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1560C>T
  hgvsp: ENST00000292123.5:c.1560C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1560C>T
  hgvsp: ENST00000592224.1:c.1560C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*967C>T
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1353C>T
  hgvsp: ENST00000454510.1:c.1353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1089C>T
  hgvsp: ENST00000538656.1:c.1089C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp520Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/19-5654110-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654110
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654110
    reference: chr 19
allele count: 22
allele frequency: 1.812489701763058e-4
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1565A>C
  hgvsp: ENSP00000464840.1:p.Lys522Thr
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1055A>C
  hgvsp: ENSP00000404545.1:p.Lys352Thr
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1358A>C
  hgvsp: ENSP00000415895.1:p.Lys453Thr
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*972A>C
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1094A>C
  hgvsp: ENSP00000438880.1:p.Lys365Thr
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1565A>C
  hgvsp: ENSP00000467423.1:p.Lys522Thr
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1565A>C
  hgvsp: ENSP00000292123.4:p.Lys522Thr
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14590
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8684
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys522Thr
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

19-5654112-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654112
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654112
    reference: chr 19
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1567G>A
  hgvsp: ENSP00000467423.1:p.Asp523Asn
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1567G>A
  hgvsp: ENSP00000464840.1:p.Asp523Asn
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1057G>A
  hgvsp: ENSP00000404545.1:p.Asp353Asn
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1567G>A
  hgvsp: ENSP00000292123.4:p.Asp523Asn
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*974G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1360G>A
  hgvsp: ENSP00000415895.1:p.Asp454Asn
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1096G>A
  hgvsp: ENSP00000438880.1:p.Asp366Asn
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8687
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp523Asn
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ

19-5654119-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654119
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654119
    reference: chr 19
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1574C>G
  hgvsp: ENSP00000464840.1:p.Ala525Gly
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*981C>G
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1574C>G
  hgvsp: ENSP00000292123.4:p.Ala525Gly
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1103C>G
  hgvsp: ENSP00000438880.1:p.Ala368Gly
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1367C>G
  hgvsp: ENSP00000415895.1:p.Ala456Gly
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1064C>G
  hgvsp: ENSP00000404545.1:p.Ala355Gly
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1574C>G
  hgvsp: ENSP00000467423.1:p.Ala525Gly
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4246
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala525Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

19-5654128-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5654128
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 5654128
    reference: chr 19
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000438880
  ensembl transcript: ENST00000538656
  gene symbol: SAFB
  hgvsc: ENST00000538656.1:c.1112G>A
  hgvsp: ENSP00000438880.1:p.Gly371Asp
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000468543
  ensembl transcript: ENST00000589863
  gene symbol: SAFB
  hgvsc: ENST00000589863.1:c.*990G>A
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000404545
  ensembl transcript: ENST00000433404
  gene symbol: SAFB
  hgvsc: ENST00000433404.1:c.1073G>A
  hgvsp: ENSP00000404545.1:p.Gly358Asp
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000464840
  ensembl transcript: ENST00000592224
  gene symbol: SAFB
  hgvsc: ENST00000592224.1:c.1583G>A
  hgvsp: ENSP00000464840.1:p.Gly528Asp
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000415895
  ensembl transcript: ENST00000454510
  gene symbol: SAFB
  hgvsc: ENST00000454510.1:c.1376G>A
  hgvsp: ENSP00000415895.1:p.Gly459Asp
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000467423
  ensembl transcript: ENST00000588852
  gene symbol: SAFB
  hgvsc: ENST00000588852.1:c.1583G>A
  hgvsp: ENSP00000467423.1:p.Gly528Asp
  variant of: http://identifiers.org/hgnc/10520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160633
  ensembl protein: ENSP00000292123
  ensembl transcript: ENST00000292123
  gene symbol: SAFB
  hgvsc: ENST00000292123.5:c.1583G>A
  hgvsp: ENSP00000292123.4:p.Gly528Asp
  variant of: http://identifiers.org/hgnc/10520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4181
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4246
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly528Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: G

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 47435
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 730
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1590
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1599
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.1179e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.14e-1

QD
type: SiteQuality
SIO_000300: 5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.413e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e0

MQ
type: SiteQuality
SIO_000300: 5.761e1

DP
type: SiteQuality
SIO_000300: 1.6274e6

MQRankSum
type: SiteQuality
SIO_000300: -4.932e0

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

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 277
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 8.993344924755681e-5
allele num: 66716
num of homozygotes: 0

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

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

Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.49667246237784e-5
allele num: 66716
num of homozygotes: 0

South Asian
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allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

Latino
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ClippingRankSum
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BaseQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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FS
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MQRankSum
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DP
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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DP
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 3.028100775193798e-4
allele num: 16512
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African
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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DP
type: SiteQuality
SIO_000300: 1.628238e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16512
num of homozygotes: 0

African
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allele frequency: 2.884615384615385e-4
allele num: 10400
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498711108446736e-5
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num of homozygotes: 0

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

African
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allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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East Asian
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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ClippingRankSum
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FS
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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African
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allele frequency: 9.617234083477592e-5
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Other
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South Asian
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European (Finnish)
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European (Non-Finnish)
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BaseQRankSum
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MQ
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ClippingRankSum
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DP
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FS
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InbreedingCoeff
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QD
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MQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16512
num of homozygotes: 0

Latino
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Other
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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MQ
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InbreedingCoeff
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VQSLOD
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FS
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DP
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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FS
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DP
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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MQ
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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European (Non-Finnish)
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African
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Latino
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South Asian
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Other
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East Asian
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FS
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BaseQRankSum
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DP
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MQRankSum
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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East Asian
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BaseQRankSum
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QD
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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DP
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MQ
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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African
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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QD
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MQRankSum
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DP
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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South Asian
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East Asian
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European (Non-Finnish)
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Latino
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Other
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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DP
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QD
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MQRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Other
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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DP
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MQ
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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Other
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African
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European (Finnish)
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South Asian
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East Asian
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BaseQRankSum
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QD
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FS
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MQ
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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African
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South Asian
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European (Finnish)
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Latino
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
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QD
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DP
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BaseQRankSum
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FS
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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South Asian
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MQ
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InbreedingCoeff
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DP
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FS
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ReadPosRankSum
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QD
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ClippingRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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South Asian
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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FS
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DP
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QD
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MQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 1548
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

FS
type: SiteQuality
SIO_000300: 9.51e-1

QD
type: SiteQuality
SIO_000300: 1.233e1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.626503e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 1.623627e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.05e-1

FS
type: SiteQuality
SIO_000300: 3.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.332e0

QD
type: SiteQuality
SIO_000300: 1.24e1

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 27

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66516
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

East Asian
type: Population
allele count: 27
allele frequency: 3.127896200185357e-3
allele num: 8632
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.622754e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

QD
type: SiteQuality
SIO_000300: 1.273e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.213886865744113e-4
allele num: 16476
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -8.975e-1

FS
type: SiteQuality
SIO_000300: 7.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

DP
type: SiteQuality
SIO_000300: 1.622058e6

QD
type: SiteQuality
SIO_000300: 7.89e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 47373
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.697439875872769e-5
allele num: 10312
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.378e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.443e0

DP
type: SiteQuality
SIO_000300: 1.621805e6

MQ
type: SiteQuality
SIO_000300: 5.826e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.84e0

FS
type: SiteQuality
SIO_000300: 8.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

MQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008966720828068e-5
allele num: 66468
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

DP
type: SiteQuality
SIO_000300: 1.621079e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e0

FS
type: SiteQuality
SIO_000300: 5.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.24e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.62029e6

VQSLOD
type: SiteQuality
SIO_000300: 3.45e-1

FS
type: SiteQuality
SIO_000300: 1.389e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -9.53e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.534e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.714396735962697e-5
allele num: 10294
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.792e1

QD
type: SiteQuality
SIO_000300: 2.292e1

InbreedingCoeff
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MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.619922e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 261
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

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

East Asian
type: Population
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allele frequency: 1.162790697674419e-4
allele num: 8600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 1.61703e6

FS
type: SiteQuality
SIO_000300: 8.846e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.891e0

QD
type: SiteQuality
SIO_000300: 1.011e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.98e-1

GenotypeQuality
all individuals: 877
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1590
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.332633543270352e-4
allele num: 8574
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66122
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.362e0

DP
type: SiteQuality
SIO_000300: 1.609977e6

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.043e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.83e-1

QD
type: SiteQuality
SIO_000300: 1.041e1

GenotypeQuality
all individuals: 167
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6428
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 10

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 260
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variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.363223265677068e-4
allele num: 66020
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.807767752059631e-5
allele num: 10196
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.55e-1

QD
type: SiteQuality
SIO_000300: 1.168e1

FS
type: SiteQuality
SIO_000300: 3.06e0

DP
type: SiteQuality
SIO_000300: 1.606995e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52077376969402e-5
allele num: 65756
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.97e-1

FS
type: SiteQuality
SIO_000300: 5.127e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.148e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.88e0

QD
type: SiteQuality
SIO_000300: 1.449e1

DP
type: SiteQuality
SIO_000300: 1.598707e6

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 148
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variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.111722283339445e-5
allele num: 16362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65710
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.288e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

QD
type: SiteQuality
SIO_000300: 1.389e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.29e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

DP
type: SiteQuality
SIO_000300: 1.595342e6

GenotypeQuality
all individuals: 251
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43724
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1292
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variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.992006394884092e-5
allele num: 10008
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16174
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.203369434416366e-4
allele num: 8310
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64690
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.557277e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

VQSLOD
type: SiteQuality
SIO_000300: -1.962e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.112e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 2.278e1

GenotypeQuality
all individuals: 4510
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 208
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 27
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 580
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variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11042
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55865207768322e-5
allele num: 64158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16086
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.775e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

DP
type: SiteQuality
SIO_000300: 1.533688e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.333e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

QD
type: SiteQuality
SIO_000300: 7.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.143e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10968
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.009489198465576e-4
allele num: 9906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8170
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.192e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.13e0

QD
type: SiteQuality
SIO_000300: 8.25e0

MQRankSum
type: SiteQuality
SIO_000300: 7.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.522136e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
all individuals: 178
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 225
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 244
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.140802160871886e-5
allele num: 63678
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16018
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.125e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.02e-1

FS
type: SiteQuality
SIO_000300: 4.092e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.33e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.511054e6

QD
type: SiteQuality
SIO_000300: 1.577e1

GenotypeQuality
all individuals: 209
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 40556
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GenotypeQuality
all individuals: 640
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

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

African
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allele frequency: 1.016466761536898e-4
allele num: 9838
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: -1.82e-1

MQRankSum
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VQSLOD
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MQ
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QD
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DP
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InbreedingCoeff
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FS
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: -8.3e-2

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

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 9.560229445506692e-5
allele num: 10460
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 0.0e0
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DP
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InbreedingCoeff
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QD
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ClippingRankSum
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FS
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MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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Other
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
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MQ
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ClippingRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.014164497481492e-4
allele num: 59162
num of homozygotes: 0

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

DP
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ReadPosRankSum
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BaseQRankSum
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QD
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MQ
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MQRankSum
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InbreedingCoeff
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SIO_000300: -2.7e-3

VQSLOD
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -8.43e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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Other
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allele frequency: 0.0e0
allele num: 808
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.533693770097883e-5
allele num: 56598
num of homozygotes: 0

South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
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MQRankSum
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -5.4e-3

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.441e1

DP
type: SiteQuality
SIO_000300: 1.091661e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 14884
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6026
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Latino
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allele frequency: 1.131477709889115e-4
allele num: 8838
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 55530
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African
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Other
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East Asian
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ClippingRankSum
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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MQRankSum
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ReadPosRankSum
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FS
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.755843804891231e-5
allele num: 14802
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African
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European (Non-Finnish)
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Latino
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East Asian
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Other
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European (Finnish)
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FS
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QD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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VQSLOD
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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European (Non-Finnish)
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East Asian
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African
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South Asian
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European (Finnish)
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FS
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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VQSLOD
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ClippingRankSum
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FS
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MQ
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DP
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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ReadPosRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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QD
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ClippingRankSum
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FS
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1934
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5553
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.564760194921775e-4
allele num: 7798
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.856726566294317e-4
allele num: 8236
num of homozygotes: 0

East Asian
type: Population
allele count: 14
allele frequency: 2.331778814123917e-3
allele num: 6004
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.740341106856944e-4
allele num: 51714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.91085003455425e-4
allele num: 5788
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.85133e5

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.634e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.51e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 7766
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 211
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GenotypeQuality
all individuals: 498
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.295336787564767e-4
allele num: 7720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13744
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.64165e5

MQRankSum
type: SiteQuality
SIO_000300: -8.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.811e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.668e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

QD
type: SiteQuality
SIO_000300: 5.88e0

VQSLOD
type: SiteQuality
SIO_000300: -2.533e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 567
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GenotypeQuality
all individuals: 1516
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.88465887674331e-4
allele num: 5306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46988
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

QD
type: SiteQuality
SIO_000300: 1.424e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.027e0

DP
type: SiteQuality
SIO_000300: 9.64444e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

GenotypeQuality
all individuals: 2294
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3959
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variant carriers: 0

GenotypeQuality
all individuals: 9515
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variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.923323503013207e-4
allele num: 15598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

DP
type: SiteQuality
SIO_000300: 1.521934e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

QD
type: SiteQuality
SIO_000300: 1.197e1

GenotypeQuality
all individuals: 589
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2074
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7188
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variant carriers: 0

GenotypeQuality
all individuals: 3561
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552891483943102e-5
allele num: 64396
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10020
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.884e1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 4.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.618e0

DP
type: SiteQuality
SIO_000300: 1.630586e6

QD
type: SiteQuality
SIO_000300: 2.881e1

GenotypeQuality
all individuals: 2221
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 941
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1791
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variant carriers: 0

GenotypeQuality
all individuals: 7049
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variant carriers: 2

GenotypeQuality
all individuals: 3567
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GenotypeQuality
all individuals: 300
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.756567425569177e-5
allele num: 11420
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15840
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.914e0

QD
type: SiteQuality
SIO_000300: 1.235e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.256e0

DP
type: SiteQuality
SIO_000300: 1.638705e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

FS
type: SiteQuality
SIO_000300: 2.3096e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.38e-1

GenotypeQuality
all individuals: 20955
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 64
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2196
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variant carriers: 0

GenotypeQuality
all individuals: 3631
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64464
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.205400192864031e-4
allele num: 8296
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15892
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.650889e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

QD
type: SiteQuality
SIO_000300: 1.437e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.17e-1

FS
type: SiteQuality
SIO_000300: 4.889e0

VQSLOD
type: SiteQuality
SIO_000300: -9.93e-2

GenotypeQuality
all individuals: 1373
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542828931128116e-5
allele num: 64816
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.806e-1

FS
type: SiteQuality
SIO_000300: 1.402e0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.142e0

QD
type: SiteQuality
SIO_000300: 9.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.681064e6

MQRankSum
type: SiteQuality
SIO_000300: 2.05e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
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Latino
type: Population
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allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.169317118802619e-4
allele num: 8552
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16300
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

FS
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.715e0

GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 36
allele frequency: 3.503990656024917e-3
allele num: 10274
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65816
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.735854e6

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
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ClippingRankSum
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SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.001e0

FS
type: SiteQuality
SIO_000300: 1.644e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.117704637220115e-5
allele num: 16346
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.001e0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 1.735854e6

FS
type: SiteQuality
SIO_000300: 1.644e0

VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.198e1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 18

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65816
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

African
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allele count: 20
allele frequency: 1.946661475569398e-3
allele num: 10274
num of homozygotes: 1

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.001e0

FS
type: SiteQuality
SIO_000300: 1.644e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
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DP
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SIO_000300: 1.735854e6

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514096235956757e-5
allele num: 66046
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e0

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e0

DP
type: SiteQuality
SIO_000300: 1.743265e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 4.267e0

QD
type: SiteQuality
SIO_000300: 1.345e1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.024986387561256e-5
allele num: 66116
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.521e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 1.653e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.745713e6

VQSLOD
type: SiteQuality
SIO_000300: 6.09e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508022680661117e-5
allele num: 66312
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.99e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.036e1

DP
type: SiteQuality
SIO_000300: 1.751127e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.99e-1

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 6
allele frequency: 5.787037037037037e-4
allele num: 10368
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.535113629513532e-5
allele num: 66356
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.316423442205235e-4
allele num: 8634
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 902
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South Asian
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MQRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
type: Population
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allele frequency: 0.0e0
allele num: 902
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South Asian
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.656509695290859e-5
allele num: 11552
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European (Non-Finnish)
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allele frequency: 1.504257047444267e-5
allele num: 66478
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.2908e1

VQSLOD
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MQRankSum
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QD
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.903e1

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

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

African
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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East Asian
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allele frequency: 0.0e0
allele num: 8646
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66622
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Latino
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allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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African
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allele num: 10394
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South Asian
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 14

GenotypeQuality
all individuals: 4159
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5211
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 14
allele frequency: 1.618122977346278e-3
allele num: 8652
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.228e1

FS
type: SiteQuality
SIO_000300: 3.37e0

DP
type: SiteQuality
SIO_000300: 1.762023e6

MQ
type: SiteQuality
SIO_000300: 5.909e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.04e-1

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26376
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5223
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8679
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7379
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4238
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.494e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.957e0

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

QD
type: SiteQuality
SIO_000300: 1.084e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

DP
type: SiteQuality
SIO_000300: 1.763429e6

GenotypeQuality
all individuals: 26373
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5227
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7397
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2477
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.297658662349732e-4
allele num: 66714
num of homozygotes: 1

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.62e0

DP
type: SiteQuality
SIO_000300: 1.765154e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.01e-2

QD
type: SiteQuality
SIO_000300: 1.461e1

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

GenotypeQuality
all individuals: 4243
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2074
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7391
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.747e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.184e0

VQSLOD
type: SiteQuality
SIO_000300: -1.432e-1

QD
type: SiteQuality
SIO_000300: 1.313e1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 1.764823e6

FS
type: SiteQuality
SIO_000300: 3.159e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4176
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 26350
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8693
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7392
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.962e0

QD
type: SiteQuality
SIO_000300: 1.019e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.765232e6

VQSLOD
type: SiteQuality
SIO_000300: 6.59e-1

GenotypeQuality
all individuals: 2076
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2483
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8701
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5236
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7393
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26356
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997242536866083e-5
allele num: 66728
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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