5-147475366-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475366
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475366
    reference: chr 5
allele count: 1
allele frequency: 8.459950593888532e-6
allele num: 118204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000427943
  ensembl transcript: ENST00000476697
  gene symbol: SPINK5
  hgvsc: ENST00000476697.3:c.*320-15T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.241-15T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.738-15T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.795-15T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.795-15T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.795-15T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.959-15T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.311-15T>C
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12872
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6705
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

5-147475371-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475371
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475371
    reference: chr 5
allele count: 2
allele frequency: 1.685630004214075e-5
allele num: 118650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.241-10C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.795-10C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.311-10C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.795-10C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.959-10C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.738-10C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000427943
  ensembl transcript: ENST00000476697
  gene symbol: SPINK5
  hgvsc: ENST00000476697.3:c.*320-10C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.795-10C>T
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12890
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6741
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD

5-147475384-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475384
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475384
    reference: chr 5
allele count: 1
allele frequency: 8.364980844193866e-6
allele num: 119546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.314G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.741G>A
  hgvsp: ENST00000508733.1:c.741G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.798G>A
  hgvsp: ENST00000398454.1:c.798G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.798G>A
  hgvsp: ENST00000359874.3:c.798G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.798G>A
  hgvsp: ENST00000256084.7:c.798G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000427943
  ensembl transcript: ENST00000476697
  gene symbol: SPINK5
  hgvsc: ENST00000476697.3:c.*323G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.962G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.244G>A
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6953
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys266Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-147475385-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475385
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475385
    reference: chr 5
allele count: 28
allele frequency: 2.341724512837668e-4
allele num: 119570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.799C>A
  hgvsp: ENSP00000256084.7:p.Gln267Lys
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.315C>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.245C>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.963C>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000427943
  ensembl transcript: ENST00000476697
  gene symbol: SPINK5
  hgvsc: ENST00000476697.3:c.*324C>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.799C>A
  hgvsp: ENSP00000381472.1:p.Gln267Lys
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.799C>A
  hgvsp: ENSP00000352936.3:p.Gln267Lys
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.742C>A
  hgvsp: ENSP00000421519.1:p.Gln248Lys
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26001
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln267Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

5-147475386-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475386
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475386
    reference: chr 5
allele count: 62637
allele frequency: 5.213059906453384e-1
allele num: 120154
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.964A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000427943
  ensembl transcript: ENST00000476697
  gene symbol: SPINK5
  hgvsc: ENST00000476697.3:c.*325A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.800A>G
  hgvsp: ENSP00000352936.3:p.Gln267Arg
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.800A>G
  hgvsp: ENSP00000256084.7:p.Gln267Arg
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.743A>G
  hgvsp: ENSP00000421519.1:p.Gln248Arg
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.800A>G
  hgvsp: ENSP00000381472.1:p.Gln267Arg
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.246A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.316A>G
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 8.25e1
  variant carriers: 1667
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 8.75e1
  variant carriers: 1325
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 3.75e1
  variant carriers: 2815
genotype depth: GenotypeDepth
  all individuals: 8463
  bin: 9.75e1
  variant carriers: 7957
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 5.25e1
  variant carriers: 4073
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 286
genotype depth: GenotypeDepth
  all individuals: 6004
  bin: 2.25e1
  variant carriers: 607
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 4.25e1
  variant carriers: 3635
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 3.25e1
  variant carriers: 1923
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 6.75e1
  variant carriers: 3088
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 5.75e1
  variant carriers: 3948
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 9.25e1
  variant carriers: 993
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 6.25e1
  variant carriers: 3575
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 7.75e1
  variant carriers: 2115
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 2.75e1
  variant carriers: 1207
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 7.25e1
  variant carriers: 2628
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 4.75e1
  variant carriers: 4075
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 99
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 7.75e1
  variant carriers: 224
hgvs: p.Gln267Arg
num of homozygotes: 16635
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

5-147475388-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475388
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475388
    reference: chr 5
allele count: 1
allele frequency: 8.320713584396998e-6
allele num: 120182
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.802C>G
  hgvsp: ENSP00000352936.3:p.Arg268Gly
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.802C>G
  hgvsp: ENSP00000381472.1:p.Arg268Gly
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.745C>G
  hgvsp: ENSP00000421519.1:p.Arg249Gly
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000427943
  ensembl transcript: ENST00000476697
  gene symbol: SPINK5
  hgvsc: ENST00000476697.3:c.*327C>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.318C>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.966C>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.802C>G
  hgvsp: ENSP00000256084.7:p.Arg268Gly
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.248C>G
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg268Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

5-147475388-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475388
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475388
    reference: chr 5
allele count: 785
allele frequency: 6.531760163751643e-3
allele num: 120182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.318C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.745C>T
  hgvsp: ENSP00000421519.1:p.Arg249Cys
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.802C>T
  hgvsp: ENSP00000352936.3:p.Arg268Cys
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.966C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000427943
  ensembl transcript: ENST00000476697
  gene symbol: SPINK5
  hgvsc: ENST00000476697.3:c.*327C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.802C>T
  hgvsp: ENSP00000381472.1:p.Arg268Cys
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.248C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.802C>T
  hgvsp: ENSP00000256084.7:p.Arg268Cys
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13260
  bin: 2.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 5.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 8.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 10802
  bin: 3.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 3.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 4.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 4.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 9.75e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 5.75e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 7549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23677
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg268Cys
num of homozygotes: 3
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-147475389-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475389
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475389
    reference: chr 5
allele count: 5
allele frequency: 4.160426027625229e-5
allele num: 120180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.803G>A
  hgvsp: ENSP00000381472.1:p.Arg268His
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.746G>A
  hgvsp: ENSP00000421519.1:p.Arg249His
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.803G>A
  hgvsp: ENSP00000352936.3:p.Arg268His
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.803G>A
  hgvsp: ENSP00000256084.7:p.Arg268His
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.319G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.967G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000427943
  ensembl transcript: ENST00000476697
  gene symbol: SPINK5
  hgvsc: ENST00000476697.3:c.*328G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.249G>A
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10907
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3994
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg268His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

5-147475400-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475400
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475398
    reference: chr 5
allele count: 1
allele frequency: 8.318913882603488e-6
allele num: 120208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.817_818delAA
  hgvsp: ENSP00000381472.1:p.Asn273GlnfsTer2
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.817_818delAA
  hgvsp: ENSP00000256084.7:p.Asn273GlnfsTer2
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.760_761delAA
  hgvsp: ENSP00000421519.1:p.Asn254GlnfsTer2
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000427943
  ensembl transcript: ENST00000476697
  gene symbol: SPINK5
  hgvsc: ENST00000476697.3:c.*342_*343delAA
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.981_982delAA
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.333_334delAA
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.817_818delAA
  hgvsp: ENSP00000352936.3:p.Asn273GlnfsTer2
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.263_264delAA
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn273GlnfsTer2
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: GAA
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-147475413-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475413
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475413
    reference: chr 5
allele count: 1
allele frequency: 8.319744417451495e-6
allele num: 120196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.827C>G
  hgvsp: ENSP00000256084.7:p.Thr276Arg
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.343C>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.827C>G
  hgvsp: ENSP00000352936.3:p.Thr276Arg
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000427943
  ensembl transcript: ENST00000476697
  gene symbol: SPINK5
  hgvsc: ENST00000476697.3:c.*352C>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.827C>G
  hgvsp: ENSP00000381472.1:p.Thr276Arg
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.770C>G
  hgvsp: ENSP00000421519.1:p.Thr257Arg
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.991C>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.273C>G
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14682
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr276Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/5-147475420-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475420
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475420
    reference: chr 5
allele count: 8
allele frequency: 6.657124787804147e-5
allele num: 120172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.280A>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.777A>C
  hgvsp: ENSP00000421519.1:p.Gln259His
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.834A>C
  hgvsp: ENSP00000381472.1:p.Gln278His
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000427943
  ensembl transcript: ENST00000476697
  gene symbol: SPINK5
  hgvsc: ENST00000476697.3:c.*359A>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.998A>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.834A>C
  hgvsp: ENSP00000256084.7:p.Gln278His
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.834A>C
  hgvsp: ENSP00000352936.3:p.Gln278His
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.350A>C
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3947
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln278His
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

5-147475426-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475426
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475426
    reference: chr 5
allele count: 4
allele frequency: 3.328950215549527e-5
allele num: 120158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.840G>T
  hgvsp: ENSP00000256084.7:p.Leu280Phe
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000427943
  ensembl transcript: ENST00000476697
  gene symbol: SPINK5
  hgvsc: ENST00000476697.3:c.*365G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.286G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.840G>T
  hgvsp: ENSP00000381472.1:p.Leu280Phe
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.356G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1004G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.840G>T
  hgvsp: ENSP00000352936.3:p.Leu280Phe
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.783G>T
  hgvsp: ENSP00000421519.1:p.Leu261Phe
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7453
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu280Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

5-147475427-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475427
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475427
    reference: chr 5
allele count: 1
allele frequency: 8.322652595835345e-6
allele num: 120154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.784G>A
  hgvsp: ENSP00000421519.1:p.Gly262Arg
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.841G>A
  hgvsp: ENSP00000256084.7:p.Gly281Arg
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.841G>A
  hgvsp: ENSP00000352936.3:p.Gly281Arg
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.287G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.357G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.841G>A
  hgvsp: ENSP00000381472.1:p.Gly281Arg
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1005G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000427943
  ensembl transcript: ENST00000476697
  gene symbol: SPINK5
  hgvsc: ENST00000476697.3:c.*366G>A
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7600
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24380
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly281Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

5-147475435-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475435
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475435
    reference: chr 5
allele count: 4
allele frequency: 3.33022512321833e-5
allele num: 120112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.365T>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.792T>A
  hgvsp: ENST00000508733.1:c.792T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.849T>A
  hgvsp: ENST00000256084.7:c.849T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.849T>A
  hgvsp: ENST00000359874.3:c.849T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.295T>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.849T>A
  hgvsp: ENST00000398454.1:c.849T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1013T>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000427943
  ensembl transcript: ENST00000476697
  gene symbol: SPINK5
  hgvsc: ENST00000476697.3:c.*374T>A
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala283Ala
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/5-147475446-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475446
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475446
    reference: chr 5
allele count: 2
allele frequency: 1.666805567130594e-5
allele num: 119990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.306C>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000427943
  ensembl transcript: ENST00000476697
  gene symbol: SPINK5
  hgvsc: ENST00000476697.3:c.*385C>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.860C>A
  hgvsp: ENSP00000381472.1:p.Thr287Asn
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.376C>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1024C>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.803C>A
  hgvsp: ENSP00000421519.1:p.Thr268Asn
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.860C>A
  hgvsp: ENSP00000256084.7:p.Thr287Asn
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.860C>A
  hgvsp: ENSP00000352936.3:p.Thr287Asn
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr287Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

5-147475453-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475453
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475452
    reference: chr 5
allele count: 1
allele frequency: 8.340840089413805e-6
allele num: 119892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.871delA
  hgvsp: ENSP00000381472.1:p.Arg291GlufsTer4
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1035delA
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.814delA
  hgvsp: ENSP00000421519.1:p.Arg272GlufsTer4
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.387delA
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.317delA
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.871delA
  hgvsp: ENSP00000256084.7:p.Arg291GlufsTer4
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000427943
  ensembl transcript: ENST00000476697
  gene symbol: SPINK5
  hgvsc: ENST00000476697.3:c.*396delA
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.871delA
  hgvsp: ENSP00000352936.3:p.Arg291GlufsTer4
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3878
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg291GlufsTer4
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TA
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

5-147475464-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475464
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475464
    reference: chr 5
allele count: 2
allele frequency: 1.67089961235129e-5
allele num: 119696
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.878T>C
  hgvsp: ENSP00000352936.3:p.Ile293Thr
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1042T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.878T>C
  hgvsp: ENSP00000381472.1:p.Ile293Thr
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.821T>C
  hgvsp: ENSP00000421519.1:p.Ile274Thr
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.324T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.878T>C
  hgvsp: ENSP00000256084.7:p.Ile293Thr
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.394T>C
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14644
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21582
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile293Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

5-147475465-TGTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475465
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475462
    reference: chr 5
allele count: 1
allele frequency: 8.355475342992263e-6
allele num: 119682
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.882+1_882+3delGTG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.882+1_882+3delGTG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.825+1_825+3delGTG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.328+1_328+3delGTG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1046+1_1046+3delGTG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.398+1_398+3delGTG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.882+1_882+3delGTG
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: TGTG
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

5-147475479-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475479
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475479
    reference: chr 5
allele count: 6
allele frequency: 5.028663381273258e-5
allele num: 119316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.398+11G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.882+11G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.882+11G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.825+11G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.328+11G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1046+11G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.882+11G>A
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8559
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9002
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17442
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

5-147475487-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475487
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475487
    reference: chr 5
allele count: 1
allele frequency: 8.425593583067927e-6
allele num: 118686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.398+19A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.882+19A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.882+19A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.825+19A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1046+19A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.882+19A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.328+19A>G
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8393
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3519
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

5-147475488-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475488
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475488
    reference: chr 5
allele count: 60428
allele frequency: 5.096828609986505e-1
allele num: 118560
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.328+20A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.882+20A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.398+20A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.882+20A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.825+20A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1046+20A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.882+20A>G
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.5e0
  variant carriers: 282
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 3.75e1
  variant carriers: 5584
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.25e1
  variant carriers: 562
genotype depth: GenotypeDepth
  all individuals: 10061
  bin: 2.75e1
  variant carriers: 6674
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 5.25e1
  variant carriers: 1671
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.75e1
  variant carriers: 511
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.75e1
  variant carriers: 652
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.75e1
  variant carriers: 525
genotype depth: GenotypeDepth
  all individuals: 8704
  bin: 2.25e1
  variant carriers: 5020
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 4.75e1
  variant carriers: 2790
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 1.25e1
  variant carriers: 953
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 3.25e1
  variant carriers: 6589
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 4.25e1
  variant carriers: 4110
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 1.75e1
  variant carriers: 2716
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.25e1
  variant carriers: 754
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 5.75e1
  variant carriers: 1138
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.25e1
  variant carriers: 470
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 507
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 9.75e1
  variant carriers: 3582
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 5.75e1
  variant carriers: 371
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 6.75e1
  variant carriers: 797
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 7.25e1
  variant carriers: 467
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 2.75e1
  variant carriers: 116
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 3.25e1
  variant carriers: 187
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 2.25e1
  variant carriers: 120
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 4.25e1
  variant carriers: 182
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 3.75e1
  variant carriers: 243
num of homozygotes: 15793
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

5-147475500-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475500
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475500
    reference: chr 5
allele count: 54
allele frequency: 5.228100069708001e-4
allele num: 103288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.398+32C>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.328+32C>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.882+32C>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.882+32C>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1046+32C>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.825+32C>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.882+32C>G
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10555
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10507
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5247
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4632
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

5-147475500-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475500
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475500
    reference: chr 5
allele count: 3
allele frequency: 2.904500038726667e-5
allele num: 103288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.328+32C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.398+32C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.882+32C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.882+32C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.882+32C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.825+32C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1046+32C>T
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10555
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4632
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3570
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6217
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5247
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6030
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3448
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

5-147475501-T-TTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475501
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475503
    reference: chr 5
allele count: 15
allele frequency: 1.332314852645977e-4
allele num: 112586
alternate allele: TTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.882+44_882+45dupTG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1046+44_1046+45dupTG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.882+44_882+45dupTG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.328+44_328+45dupTG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.882+44_882+45dupTG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.825+44_825+45dupTG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.398+44_398+45dupTG
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11785
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 7.5e0
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 11946
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7700
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 2.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3211
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10197
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4809
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 7.5e0
  variant carriers: 11
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-147475502-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475502
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475502
    reference: chr 5
allele count: 1
allele frequency: 1.255461256465626e-5
allele num: 79652
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.882+34T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1046+34T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.398+34T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.882+34T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.825+34T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.328+34T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.882+34T>C
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5771
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-147475502-TGTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475502
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475499
    reference: chr 5
allele count: 15
allele frequency: 1.883191884698438e-4
allele num: 79652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.825+35_825+37delGTG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.882+35_882+37delGTG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1046+35_1046+37delGTG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.882+35_882+37delGTG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.882+35_882+37delGTG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.398+35_398+37delGTG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.328+35_328+37delGTG
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8070
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8915
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3981
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: TGTG
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-147475512-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475512
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475512
    reference: chr 5
allele count: 134
allele frequency: 1.248090607652472e-3
allele num: 107364
alternate allele: G
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11096
  bin: 1.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 1.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 11989
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9883
  bin: 9.75e1
  variant carriers: 135
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 2
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.315097317201473e-4
  allele num: 7604
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 10
  allele frequency: 9.68054211035818e-4
  allele num: 10330
  num of homozygotes: 0
population: African
  type: Population
  allele count: 105
  allele frequency: 1.167185415740329e-2
  allele num: 8996
  num of homozygotes: 1
population: European (Non-Finnish)
  type: Population
  allele count: 13
  allele frequency: 2.208105445527737e-4
  allele num: 58874
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

5-147475512-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475512
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475513
    reference: chr 5
allele count: 232
allele frequency: 2.160873290860996e-3
allele num: 107364
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.398+51dupG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.882+51dupG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1046+51dupG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.825+51dupG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.882+51dupG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.328+51dupG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.882+51dupG
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11989
  bin: 2.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11096
  bin: 1.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 1.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 2.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9883
  bin: 9.75e1
  variant carriers: 202
genotype quality: GenotypeQuality
  all individuals: 5417
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 3.75e1
  variant carriers: 3
num of homozygotes: 3
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ

5-147475512-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475512
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475511
    reference: chr 5
allele count: 98
allele frequency: 9.127826832085243e-4
allele num: 107364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1046+51delG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.882+51delG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.882+51delG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.825+51delG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.328+51delG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.398+51delG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.882+51delG
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 7.5e0
  variant carriers: 166
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 1.25e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 2.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11989
  bin: 2.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11096
  bin: 1.75e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 2.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 2.5e0
  variant carriers: 139
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 5417
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.5e0
  variant carriers: 185
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: TG
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

5-147475512-TGGGGGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475512
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475506
    reference: chr 5
allele count: 4
allele frequency: 3.725643604932752e-5
allele num: 107364
alternate allele: T
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11096
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9883
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 3.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6130
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7604
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14618
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8996
  num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: TGGGGGG
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

5-147475512-TGGGGGGGTGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475512
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475502
    reference: chr 5
allele count: 2
allele frequency: 1.862821802466376e-5
allele num: 107364
alternate allele: T
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11096
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9883
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5417
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.698542650405952e-5
  allele num: 58874
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7604
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14618
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8996
  num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
reference allele: TGGGGGGGTGC
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

5-147475512-TGGGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475512
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475508
    reference: chr 5
allele count: 3
allele frequency: 2.794232703699564e-5
allele num: 107364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.882+48_882+51delGGGG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1046+48_1046+51delGGGG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.882+48_882+51delGGGG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.825+48_825+51delGGGG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.398+48_398+51delGGGG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.882+48_882+51delGGGG
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.328+48_328+51delGGGG
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11096
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11989
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9883
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: TGGGG
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

5-147475513-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475513
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475514
    reference: chr 5
allele count: 51393
allele frequency: 4.760286026564903e-1
allele num: 107962
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1046+45_1046+46insT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.882+45_882+46insT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.328+45_328+46insT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.882+45_882+46insT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.882+45_882+46insT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.398+45_398+46insT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.825+45_825+46insT
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 3.25e1
  variant carriers: 3492
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 619
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 3.75e1
  variant carriers: 1866
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 285
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.75e1
  variant carriers: 510
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 839
genotype depth: GenotypeDepth
  all individuals: 6910
  bin: 1.25e1
  variant carriers: 5509
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.25e1
  variant carriers: 389
genotype depth: GenotypeDepth
  all individuals: 8571
  bin: 2.75e1
  variant carriers: 6101
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 463
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.25e1
  variant carriers: 765
genotype depth: GenotypeDepth
  all individuals: 12026
  bin: 2.25e1
  variant carriers: 8856
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.25e1
  variant carriers: 1145
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 7.5e0
  variant carriers: 1665
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 11656
  bin: 1.75e1
  variant carriers: 9063
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 9.75e1
  variant carriers: 1410
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.75e1
  variant carriers: 629
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.75e1
  variant carriers: 434
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 1.25e1
  variant carriers: 940
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 1248
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 1.75e1
  variant carriers: 838
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 7.5e0
  variant carriers: 775
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 3.75e1
  variant carriers: 1137
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 4.75e1
  variant carriers: 1216
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 611
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 8.75e1
  variant carriers: 541
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 2.25e1
  variant carriers: 1018
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 5.75e1
  variant carriers: 1179
num of homozygotes: 11488
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

5-147475513-G-GTGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475513
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475516
    reference: chr 5
allele count: 2
allele frequency: 1.852503658694726e-5
allele num: 107962
alternate allele: GTGT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.328+45_328+46insTGT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1046+45_1046+46insTGT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.398+45_398+46insTGT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.882+45_882+46insTGT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.882+45_882+46insTGT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.882+45_882+46insTGT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.825+45_825+46insTGT
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12026
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11656
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30089
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-147475514-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475514
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475514
    reference: chr 5
allele count: 2
allele frequency: 7.27802037845706e-5
allele num: 27480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.328+46G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.882+46G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.825+46G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.882+46G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.398+46G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1046+46G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.882+46G>T
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20035
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 3.25e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

5-147475516-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475516
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475516
    reference: chr 5
allele count: 1
allele frequency: 9.027389098524925e-6
allele num: 110774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.328+48G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.882+48G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.398+48G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.825+48G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.882+48G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1046+48G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.882+48G>T
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11084
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9327
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2718
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4840
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-147475518-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147475518
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147475518
    reference: chr 5
allele count: 14
allele frequency: 1.270624965965403e-4
allele num: 110182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.882+50G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.328+50G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.398+50G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1046+50G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.882+50G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.882+50G>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.825+50G>T
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6164
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11076
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11919
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9172
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4917
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3949
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

5-147477385-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477385
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477385
    reference: chr 5
allele count: 1
allele frequency: 8.711560240439062e-6
allele num: 114790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.883-45T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.826-45T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.883-45T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.399-45T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.329-45T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.883-45T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1047-45T>C
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3537
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-147477407-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477407
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477407
    reference: chr 5
allele count: 42
allele frequency: 3.605645410528485e-4
allele num: 116484
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.399-23A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.329-23A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.883-23A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.883-23A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.883-23A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1047-23A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.826-23A>G
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12090
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25810
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6346
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6104
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

5-147477422-T-TTTTCCTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477422
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477429
    reference: chr 5
allele count: 1
allele frequency: 8.423606314335294e-6
allele num: 118714
alternate allele: TTTTCCTC
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.883-7_883-6insTTCCTCT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.883-7_883-6insTTCCTCT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1047-7_1047-6insTTCCTCT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.826-7_826-6insTTCCTCT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.399-7_399-6insTTCCTCT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.329-7_329-6insTTCCTCT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.883-7_883-6insTTCCTCT
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12802
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10710
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
hgvs: c.883-7_883-6insTTCCTCT
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

5-147477438-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477438
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477438
    reference: chr 5
allele count: 2
allele frequency: 1.669923016548937e-5
allele num: 119766
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.891C>T
  hgvsp: ENST00000359874.3:c.891C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.407C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.337C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.834C>T
  hgvsp: ENST00000508733.1:c.834C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.891C>T
  hgvsp: ENST00000398454.1:c.891C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1055C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.891C>T
  hgvsp: ENST00000256084.7:c.891C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3946
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6656
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29051
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Cys297Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

5-147477440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477440
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477440
    reference: chr 5
allele count: 17
allele frequency: 1.418771177246249e-4
allele num: 119822
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1057G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.409G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.893G>A
  hgvsp: ENSP00000352936.3:p.Ser298Asn
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.339G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.836G>A
  hgvsp: ENSP00000421519.1:p.Ser279Asn
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.893G>A
  hgvsp: ENSP00000381472.1:p.Ser298Asn
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.893G>A
  hgvsp: ENSP00000256084.7:p.Ser298Asn
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6958
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser298Asn
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

5-147477443-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477443
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477443
    reference: chr 5
allele count: 1
allele frequency: 8.339588024351597e-6
allele num: 119910
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.839A>G
  hgvsp: ENSP00000421519.1:p.Gln280Arg
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1060A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.896A>G
  hgvsp: ENSP00000256084.7:p.Gln299Arg
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.896A>G
  hgvsp: ENSP00000352936.3:p.Gln299Arg
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.412A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.896A>G
  hgvsp: ENSP00000381472.1:p.Gln299Arg
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.342A>G
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln299Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

5-147477444-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477444
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477444
    reference: chr 5
allele count: 1
allele frequency: 8.338197281747686e-6
allele num: 119930
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.840A>G
  hgvsp: ENST00000508733.1:c.840A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.897A>G
  hgvsp: ENST00000359874.3:c.897A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.897A>G
  hgvsp: ENST00000398454.1:c.897A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.343A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.413A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.897A>G
  hgvsp: ENST00000256084.7:c.897A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1061A>G
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln299Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

5-147477453-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477453
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477453
    reference: chr 5
allele count: 2
allele frequency: 1.666361167119361e-5
allele num: 120022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.906T>A
  hgvsp: ENSP00000256084.7:p.Asn302Lys
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.352T>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.849T>A
  hgvsp: ENSP00000421519.1:p.Asn283Lys
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.906T>A
  hgvsp: ENSP00000352936.3:p.Asn302Lys
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.906T>A
  hgvsp: ENSP00000381472.1:p.Asn302Lys
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.422T>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1070T>A
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2891
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10737
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3963
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn302Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-147477457-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477457
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477457
    reference: chr 5
allele count: 2
allele frequency: 1.665667266306883e-5
allele num: 120072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.910G>A
  hgvsp: ENSP00000381472.1:p.Ala304Thr
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1074G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.910G>A
  hgvsp: ENSP00000256084.7:p.Ala304Thr
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.910G>A
  hgvsp: ENSP00000352936.3:p.Ala304Thr
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.356G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.853G>A
  hgvsp: ENSP00000421519.1:p.Ala285Thr
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.426G>A
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3968
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala304Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

5-147477458-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477458
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477458
    reference: chr 5
allele count: 1
allele frequency: 8.328058896032513e-6
allele num: 120076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.911C>T
  hgvsp: ENSP00000381472.1:p.Ala304Val
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.357C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.854C>T
  hgvsp: ENSP00000421519.1:p.Ala285Val
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1075C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.427C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.911C>T
  hgvsp: ENSP00000256084.7:p.Ala304Val
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.911C>T
  hgvsp: ENSP00000352936.3:p.Ala304Val
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3969
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6703
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala304Val
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

5-147477461-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477461
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477461
    reference: chr 5
allele count: 2
allele frequency: 1.665251203143994e-5
allele num: 120102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1078A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.914A>G
  hgvsp: ENSP00000352936.3:p.Lys305Arg
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.360A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.914A>G
  hgvsp: ENSP00000256084.7:p.Lys305Arg
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.914A>G
  hgvsp: ENSP00000381472.1:p.Lys305Arg
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.857A>G
  hgvsp: ENSP00000421519.1:p.Lys286Arg
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.430A>G
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6710
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3970
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys305Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-147477467-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477467
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477467
    reference: chr 5
allele count: 1
allele frequency: 8.324592511196577e-6
allele num: 120126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.920G>A
  hgvsp: ENSP00000256084.7:p.Gly307Glu
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.436G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.920G>A
  hgvsp: ENSP00000352936.3:p.Gly307Glu
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1084G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.366G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.863G>A
  hgvsp: ENSP00000421519.1:p.Gly288Glu
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.920G>A
  hgvsp: ENSP00000381472.1:p.Gly307Glu
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly307Glu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

5-147477480-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477480
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477480
    reference: chr 5
allele count: 1
allele frequency: 8.319744417451495e-6
allele num: 120196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.876T>C
  hgvsp: ENST00000508733.1:c.876T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.933T>C
  hgvsp: ENST00000359874.3:c.933T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.379T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.449T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.933T>C
  hgvsp: ENST00000398454.1:c.933T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.933T>C
  hgvsp: ENST00000256084.7:c.933T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1097T>C
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys311Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

5-147477481-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477481
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477481
    reference: chr 5
allele count: 1
allele frequency: 8.320021299254527e-6
allele num: 120192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.934A>G
  hgvsp: ENSP00000381472.1:p.Thr312Ala
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.877A>G
  hgvsp: ENSP00000421519.1:p.Thr293Ala
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.380A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.934A>G
  hgvsp: ENSP00000256084.7:p.Thr312Ala
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1098A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.450A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.934A>G
  hgvsp: ENSP00000352936.3:p.Thr312Ala
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6726
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr312Ala
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-147477500-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477500
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477500
    reference: chr 5
allele count: 2
allele frequency: 1.66333998669328e-5
allele num: 120240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.469T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1117T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.896T>C
  hgvsp: ENSP00000421519.1:p.Ile299Thr
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.953T>C
  hgvsp: ENSP00000381472.1:p.Ile318Thr
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.399T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.953T>C
  hgvsp: ENSP00000352936.3:p.Ile318Thr
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.953T>C
  hgvsp: ENSP00000256084.7:p.Ile318Thr
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3973
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile318Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

5-147477502-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477502
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477502
    reference: chr 5
allele count: 5
allele frequency: 4.158557479581483e-5
allele num: 120234
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.955C>T
  hgvsp: ENSP00000352936.3:p.Arg319Cys
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.898C>T
  hgvsp: ENSP00000421519.1:p.Arg300Cys
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.471C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.401C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.955C>T
  hgvsp: ENSP00000256084.7:p.Arg319Cys
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.955C>T
  hgvsp: ENSP00000381472.1:p.Arg319Cys
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1119C>T
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29178
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg319Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

5-147477505-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477505
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477505
    reference: chr 5
allele count: 1
allele frequency: 8.3166999334664e-6
allele num: 120240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1122G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.958G>A
  hgvsp: ENSP00000256084.7:p.Gly320Ser
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.958G>A
  hgvsp: ENSP00000352936.3:p.Gly320Ser
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.958G>A
  hgvsp: ENSP00000381472.1:p.Gly320Ser
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.404G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.901G>A
  hgvsp: ENSP00000421519.1:p.Gly301Ser
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.474G>A
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27793
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3973
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly320Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD

5-147477512-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477512
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477512
    reference: chr 5
allele count: 1
allele frequency: 8.316284949187499e-6
allele num: 120246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.481A>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.965A>T
  hgvsp: ENSP00000352936.3:p.Asp322Val
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.411A>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.965A>T
  hgvsp: ENSP00000256084.7:p.Asp322Val
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.965A>T
  hgvsp: ENSP00000381472.1:p.Asp322Val
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1129A>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.908A>T
  hgvsp: ENSP00000421519.1:p.Asp303Val
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6727
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp322Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

5-147477531-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477531
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477531
    reference: chr 5
allele count: 4
allele frequency: 3.326624640308711e-5
allele num: 120242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.927C>T
  hgvsp: ENST00000508733.1:c.927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.500C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1148C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.430C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.984C>T
  hgvsp: ENST00000256084.7:c.984C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.984C>T
  hgvsp: ENST00000398454.1:c.984C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.984C>T
  hgvsp: ENST00000359874.3:c.984C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10766
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn328Asn
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

5-147477549-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477549
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477549
    reference: chr 5
allele count: 1
allele frequency: 8.321682977165302e-6
allele num: 120168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.518A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.945A>G
  hgvsp: ENST00000508733.1:c.945A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.1002A>G
  hgvsp: ENST00000398454.1:c.1002A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.1002A>G
  hgvsp: ENST00000256084.7:c.1002A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.1002A>G
  hgvsp: ENST00000359874.3:c.1002A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.448A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1166A>G
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13594
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4003
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln334Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

5-147477551-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477551
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477551
    reference: chr 5
allele count: 60862
allele frequency: 5.069720949604332e-1
allele num: 120050
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.1004C>T
  hgvsp: ENSP00000352936.3:p.Ala335Val
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1168C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.947C>T
  hgvsp: ENSP00000421519.1:p.Ala316Val
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.1004C>T
  hgvsp: ENSP00000256084.7:p.Ala335Val
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.450C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.520C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.1004C>T
  hgvsp: ENSP00000381472.1:p.Ala335Val
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 3.25e1
  variant carriers: 2704
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 5.25e1
  variant carriers: 4524
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 6.75e1
  variant carriers: 2611
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 8.25e1
  variant carriers: 1018
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 787
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 7.75e1
  variant carriers: 1348
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 2.75e1
  variant carriers: 1618
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 333
genotype depth: GenotypeDepth
  all individuals: 7562
  bin: 2.25e1
  variant carriers: 794
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 5.75e1
  variant carriers: 3985
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 6730
  bin: 9.75e1
  variant carriers: 6535
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.25e1
  variant carriers: 650
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 4.25e1
  variant carriers: 4420
genotype depth: GenotypeDepth
  all individuals: 4846
  bin: 4.75e1
  variant carriers: 4443
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 7.25e1
  variant carriers: 1997
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 6.25e1
  variant carriers: 3364
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 3.75e1
  variant carriers: 3701
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 6.75e1
  variant carriers: 220
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 8.25e1
  variant carriers: 325
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 90
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.75e1
  variant carriers: 316
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 7.25e1
  variant carriers: 154
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 9929
  bin: 6.25e1
  variant carriers: 166
hgvs: p.Ala335Val
num of homozygotes: 15959
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/5-147477554-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477554
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477554
    reference: chr 5
allele count: 1
allele frequency: 8.383916294979712e-6
allele num: 119276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.1007A>C
  hgvsp: ENSP00000256084.7:p.Tyr336Ser
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.523A>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1171A>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.950A>C
  hgvsp: ENSP00000421519.1:p.Tyr317Ser
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.1007A>C
  hgvsp: ENSP00000352936.3:p.Tyr336Ser
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.453A>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.1007A>C
  hgvsp: ENSP00000381472.1:p.Tyr336Ser
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11907
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr336Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

5-147477565-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477565
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477565
    reference: chr 5
allele count: 3
allele frequency: 2.54146829094729e-5
allele num: 118042
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.1010+8T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.1010+8T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.526+8T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.953+8T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.1010+8T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.464T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1174+8T>C
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10229
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8164
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1010+8T>C
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-147477566-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477566
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477566
    reference: chr 5
allele count: 3
allele frequency: 2.541769749550954e-5
allele num: 118028
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.953+9A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.1010+9A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.526+9A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.1010+9A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000481286
  gene symbol: SPINK5
  hgvsc: ENST00000481286.1:n.465A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1174+9A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.1010+9A>G
  variant of: http://identifiers.org/hgnc/15464
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22383
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10207
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33466
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8162
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-147477569-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477569
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477569
    reference: chr 5
allele count: 1
allele frequency: 8.519629225736096e-6
allele num: 117376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1174+12G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.1010+12G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.1010+12G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.526+12G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.1010+12G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.953+12G>A
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10815
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6629
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

5-147477588-A-AAAGTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477588
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477593
    reference: chr 5
allele count: 2
allele frequency: 1.74675540184108e-5
allele num: 114498
alternate allele: AAAGTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.953+31_953+32insAAGTT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.1010+31_1010+32insAAGTT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1174+31_1174+32insAAGTT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.526+31_526+32insAAGTT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.1010+31_1010+32insAAGTT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.1010+31_1010+32insAAGTT
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 14617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11600
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6419
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8400
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4483
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8127
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

5-147477590-A-AGATAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477590
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477595
    reference: chr 5
allele count: 1
allele frequency: 8.734997641550637e-6
allele num: 114482
alternate allele: AGATAT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1174+33_1174+34insGATAT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.526+33_526+34insGATAT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.1010+33_1010+34insGATAT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.1010+33_1010+34insGATAT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.953+33_953+34insGATAT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.1010+33_1010+34insGATAT
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8298
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3460
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

5-147477597-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477597
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477597
    reference: chr 5
allele count: 1
allele frequency: 8.969092507220119e-6
allele num: 111494
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1174+40C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.1010+40C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.1010+40C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.1010+40C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.526+40C>T
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.953+40C>T
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3958
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5837
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6553
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

5-147477603-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147477603
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147477603
    reference: chr 5
allele count: 1
allele frequency: 9.161704076958313e-6
allele num: 109150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.1010+46G>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.1010+46G>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1174+46G>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.1010+46G>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.526+46G>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.953+46G>C
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14486
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7865
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6636
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 498
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

5-147478747-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147478747
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147478747
    reference: chr 5
allele count: 43
allele frequency: 7.279745378208167e-4
allele num: 59068
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1175-50T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.1011-50T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.954-50T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.1011-50T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.1011-50T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.527-50T>C
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23103
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13837
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5923
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8081
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  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 4970
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7567
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1292
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genotype quality: GenotypeQuality
  all individuals: 4766
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genotype quality: GenotypeQuality
  all individuals: 3749
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

5-147478750-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147478750
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147478750
    reference: chr 5
allele count: 1
allele frequency: 1.693709562684191e-5
allele num: 59042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.1011-47C>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.954-47C>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.1011-47C>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1175-47C>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.527-47C>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.1011-47C>G
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13868
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1150
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 15890
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genotype quality: GenotypeQuality
  all individuals: 322
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3685
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 5571
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3337
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genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
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genotype quality: GenotypeQuality
  all individuals: 778
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5909
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5142
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

5-147478751-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147478751
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147478751
    reference: chr 5
allele count: 1
allele frequency: 1.686340640809443e-5
allele num: 59300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.527-46A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.954-46A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.1011-46A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1175-46A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.1011-46A>G
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.1011-46A>G
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13879
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4975
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3575
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16644
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3356
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5936
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5156
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

5-147478752-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147478752
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147478752
    reference: chr 5
allele count: 1
allele frequency: 1.683898561950628e-5
allele num: 59386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.954-45T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.527-45T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.1011-45T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1175-45T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.1011-45T>C
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.1011-45T>C
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13884
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23202
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17119
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5930
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4573
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

5-147478755-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147478755
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147478755
    reference: chr 5
allele count: 2
allele frequency: 3.358183894150044e-5
allele num: 59556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.1011-42G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.1011-42G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.527-42G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1175-42G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.1011-42G>A
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.954-42G>A
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13940
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5167
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5912
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4873
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3631
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

5-147478755-GTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147478755
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 147478753
    reference: chr 5
allele count: 1
allele frequency: 1.679091947075022e-5
allele num: 59556
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000256084
  ensembl transcript: ENST00000256084
  gene symbol: SPINK5
  hgvsc: ENST00000256084.7:c.1011-40_1011-39delTT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000476608
  gene symbol: SPINK5
  hgvsc: ENST00000476608.1:n.527-40_527-39delTT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000381472
  ensembl transcript: ENST00000398454
  gene symbol: SPINK5
  hgvsc: ENST00000398454.1:c.1011-40_1011-39delTT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000421519
  ensembl transcript: ENST00000508733
  gene symbol: SPINK5
  hgvsc: ENST00000508733.1:c.954-40_954-39delTT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl protein: ENSP00000352936
  ensembl transcript: ENST00000359874
  gene symbol: SPINK5
  hgvsc: ENST00000359874.3:c.1011-40_1011-39delTT
  variant of: http://identifiers.org/hgnc/15464
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133710
  ensembl transcript: ENST00000507988
  gene symbol: SPINK5
  hgvsc: ENST00000507988.1:n.1175-40_1175-39delTT
  variant of: http://identifiers.org/hgnc/15464
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13940
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5167
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3631
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4873
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: GTT

GenotypeQuality
all individuals: 301
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1148
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2888
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25525
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1774
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.925383791503035e-5
allele num: 11204
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65386
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.074354e6

FS
type: SiteQuality
SIO_000300: 2.093e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e0

VQSLOD
type: SiteQuality
SIO_000300: 4.23e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.55e-1

QD
type: SiteQuality
SIO_000300: 1.348e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

GenotypeQuality
all individuals: 2839
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3764
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 25855
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1788
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.071251035625518e-4
allele num: 9656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

FS
type: SiteQuality
SIO_000300: 4.474e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.763e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.98e-1

MQ
type: SiteQuality
SIO_000300: 5.898e1

DP
type: SiteQuality
SIO_000300: 2.083726e6

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

QD
type: SiteQuality
SIO_000300: 1.391e1

GenotypeQuality
all individuals: 102
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26322
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 519
bin: 2.25e1
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GenotypeQuality
all individuals: 3041
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3870
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12959
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1466
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-5
allele num: 66100
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e0

VQSLOD
type: SiteQuality
SIO_000300: -9.823e-1

FS
type: SiteQuality
SIO_000300: 4.228e0

DP
type: SiteQuality
SIO_000300: 2.099267e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.91e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.946e0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3041
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26238
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12982
bin: 9.75e1
variant carriers: 28

GenotypeQuality
all individuals: 6898
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3870
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1465
bin: 8.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.816787162757891e-5
allele num: 11342
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.630203291384318e-4
allele num: 66112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.064664419246092e-4
allele num: 6526
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

QD
type: SiteQuality
SIO_000300: 1.374e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

FS
type: SiteQuality
SIO_000300: 1.213e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.549e0

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

DP
type: SiteQuality
SIO_000300: 2.100994e6

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 19

GenotypeQuality
all individuals: 758
bin: 7.25e1
variant carriers: 133

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 59

GenotypeQuality
all individuals: 62
bin: 2.5e0
variant carriers: 19

GenotypeQuality
all individuals: 703
bin: 8.25e1
variant carriers: 265

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 43

GenotypeQuality
all individuals: 46
bin: 7.5e0
variant carriers: 29

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 53

GenotypeQuality
all individuals: 46826
bin: 9.75e1
variant carriers: 44113

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 97

GenotypeQuality
all individuals: 414
bin: 8.75e1
variant carriers: 201

GenotypeQuality
all individuals: 1814
bin: 6.75e1
variant carriers: 182

GenotypeQuality
all individuals: 7508
bin: 6.25e1
variant carriers: 131

GenotypeQuality
all individuals: 608
bin: 9.25e1
variant carriers: 346

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 52

Other
type: Population
allele count: 448
allele frequency: 5.011185682326622e-1
allele num: 894
num of homozygotes: 104

South Asian
type: Population
allele count: 8077
allele frequency: 4.89455823536541e-1
allele num: 16502
num of homozygotes: 1975

African
type: Population
allele count: 4501
allele frequency: 4.604132569558101e-1
allele num: 9776
num of homozygotes: 1026

Latino
type: Population
allele count: 8309
allele frequency: 7.279656562116699e-1
allele num: 11414
num of homozygotes: 3033

East Asian
type: Population
allele count: 4173
allele frequency: 4.865904850746269e-1
allele num: 8576
num of homozygotes: 1025

European (Finnish)
type: Population
allele count: 3494
allele frequency: 5.318112633181127e-1
allele num: 6570
num of homozygotes: 944

European (Non-Finnish)
type: Population
allele count: 33635
allele frequency: 5.063834271777423e-1
allele num: 66422
num of homozygotes: 8528

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

FS
type: SiteQuality
SIO_000300: 1.896e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.19e-2

DP
type: SiteQuality
SIO_000300: 3.864016e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

QD
type: SiteQuality
SIO_000300: 1.825e1

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.996e0

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

MQ
type: SiteQuality
SIO_000300: 5.926e1

GenotypeQuality
all individuals: 15282
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 1935
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variant carriers: 0

GenotypeQuality
all individuals: 2875
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7549
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23677
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.764241893076249e-5
allele num: 11410
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.74e0

FS
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.181e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: 3.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.278e0

DP
type: SiteQuality
SIO_000300: 2.747416e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3963
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15282
bin: 9.75e1
variant carriers: 781

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2849
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1358
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2875
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 44
allele frequency: 3.856266432953549e-3
allele num: 11410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 23
allele frequency: 3.502893694791349e-3
allele num: 6566
num of homozygotes: 0

South Asian
type: Population
allele count: 166
allele frequency: 1.00618256758395e-2
allele num: 16498
num of homozygotes: 2

African
type: Population
allele count: 13
allele frequency: 1.329515238290039e-3
allele num: 9778
num of homozygotes: 0

Other
type: Population
allele count: 10
allele frequency: 1.121076233183856e-2
allele num: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166588894073728e-4
allele num: 8572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 528
allele frequency: 7.943911172629615e-3
allele num: 66466
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

DP
type: SiteQuality
SIO_000300: 2.747416e6

FS
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.278e0

QD
type: SiteQuality
SIO_000300: 1.181e1

VQSLOD
type: SiteQuality
SIO_000300: 3.74e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: 3.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1956
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24005
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14709
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2900
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7672
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

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

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

African
type: Population
allele count: 4
allele frequency: 4.091653027823241e-4
allele num: 9776
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.764241893076249e-5
allele num: 11410
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.72458e6

MQRankSum
type: SiteQuality
SIO_000300: 7.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

QD
type: SiteQuality
SIO_000300: 1.295e1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

FS
type: SiteQuality
SIO_000300: 1.909e0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7658
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1949
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 3974
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 2884
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

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

GenotypeQuality
all individuals: 1360
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504438092372499e-5
allele num: 66470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.46e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 3.974e0

DP
type: SiteQuality
SIO_000300: 2.72431e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.84e-1

QD
type: SiteQuality
SIO_000300: 8.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.32e-1

GenotypeQuality
all individuals: 24420
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2879
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2850
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7626
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3960
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
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: 16500
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.679e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

VQSLOD
type: SiteQuality
SIO_000300: -1.507e0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 7.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.724243e6

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2847
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7611
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variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24321
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 2.25e1
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GenotypeQuality
all individuals: 14675
bin: 9.75e1
variant carriers: 8

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: 16500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.203840250398772e-4
allele num: 66454
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.25e-1

DP
type: SiteQuality
SIO_000300: 2.723207e6

FS
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

MQ
type: SiteQuality
SIO_000300: 5.924e1

VQSLOD
type: SiteQuality
SIO_000300: 5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.609e1

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.019563581640331e-5
allele num: 66450
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.72214e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.79e0

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

GenotypeQuality
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bin: 2.5e0
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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bin: 7.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504981488727689e-5
allele num: 66446
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

FS
type: SiteQuality
SIO_000300: 5.162e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -6.743e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.69e-1

MQ
type: SiteQuality
SIO_000300: 5.897e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.722028e6

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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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.508156463778285e-4
allele num: 11402
num of homozygotes: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.897e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

QD
type: SiteQuality
SIO_000300: 1.585e1

DP
type: SiteQuality
SIO_000300: 2.719776e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.15e-2

FS
type: SiteQuality
SIO_000300: 1.524e0

MQRankSum
type: SiteQuality
SIO_000300: -3.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.523e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.337540906965872e-4
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66366
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.712343e6

VQSLOD
type: SiteQuality
SIO_000300: 1.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.243e0

FS
type: SiteQuality
SIO_000300: 2.003e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-1

QD
type: SiteQuality
SIO_000300: 9.76e0

GenotypeQuality
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bin: 3.25e1
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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508432135638218e-5
allele num: 66294
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.366e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.346866932644919e-4
allele num: 8522
num of homozygotes: 0

South Asian
type: Population
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: 9720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.197e1

QD
type: SiteQuality
SIO_000300: 2.23e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.684364e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

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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bin: 9.75e1
variant carriers: 1

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

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

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

South Asian
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allele num: 16472
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8526
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

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

DP
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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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variant carriers: 6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65988
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African
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South Asian
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allele frequency: 3.648747263439553e-4
allele num: 16444
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
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FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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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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variant carriers: 1

GenotypeQuality
all individuals: 10112
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9622
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.19047619047619e-4
allele num: 8400
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.461e0

VQSLOD
type: SiteQuality
SIO_000300: 3.85e-1

QD
type: SiteQuality
SIO_000300: 1.073e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

DP
type: SiteQuality
SIO_000300: 2.630109e6

MQ
type: SiteQuality
SIO_000300: 5.996e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

GenotypeQuality
all individuals: 128
bin: 1.25e1
variant carriers: 75

GenotypeQuality
all individuals: 224
bin: 2.5e0
variant carriers: 37

GenotypeQuality
all individuals: 6131
bin: 6.25e1
variant carriers: 749

GenotypeQuality
all individuals: 753
bin: 5.25e1
variant carriers: 525

GenotypeQuality
all individuals: 1444
bin: 8.25e1
variant carriers: 1002

GenotypeQuality
all individuals: 767
bin: 8.75e1
variant carriers: 548

GenotypeQuality
all individuals: 1583
bin: 7.75e1
variant carriers: 913

GenotypeQuality
all individuals: 40130
bin: 9.75e1
variant carriers: 37293

GenotypeQuality
all individuals: 642
bin: 4.75e1
variant carriers: 439

GenotypeQuality
all individuals: 1172
bin: 9.25e1
variant carriers: 917

Other
type: Population
allele count: 439
allele frequency: 4.977324263038549e-1
allele num: 882
num of homozygotes: 101

East Asian
type: Population
allele count: 4095
allele frequency: 4.879647283126787e-1
allele num: 8392
num of homozygotes: 997

Latino
type: Population
allele count: 8171
allele frequency: 7.237378210806023e-1
allele num: 11290
num of homozygotes: 2956

South Asian
type: Population
allele count: 8051
allele frequency: 4.898393769773667e-1
allele num: 16436
num of homozygotes: 1966

European (Finnish)
type: Population
allele count: 3456
allele frequency: 5.321835540498923e-1
allele num: 6494
num of homozygotes: 930

African
type: Population
allele count: 3024
allele frequency: 3.142797755144461e-1
allele num: 9622
num of homozygotes: 486

European (Non-Finnish)
type: Population
allele count: 33192
allele frequency: 5.071817126092537e-1
allele num: 65444
num of homozygotes: 8357

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.21e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

QD
type: SiteQuality
SIO_000300: 2.135e1

DP
type: SiteQuality
SIO_000300: 2.620207e6

GenotypeQuality
all individuals: 1652
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1941
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6030
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7226
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6217
bin: 9.75e1
variant carriers: 52

GenotypeQuality
all individuals: 2956
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 50
allele frequency: 5.498130635583902e-3
allele num: 9094
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.246882793017456e-3
allele num: 802
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.177700348432056e-4
allele num: 9184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.784439685938615e-5
allele num: 56040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15028
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.323e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

DP
type: SiteQuality
SIO_000300: 2.272821e6

VQSLOD
type: SiteQuality
SIO_000300: 5.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

QD
type: SiteQuality
SIO_000300: 1.406e1

GenotypeQuality
all individuals: 1371
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3001
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4117
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2197
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1941
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7226
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2956
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.568879371877231e-5
allele num: 56040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.654245408570669e-5
allele num: 15028
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.03e0

DP
type: SiteQuality
SIO_000300: 2.272821e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.323e0

QD
type: SiteQuality
SIO_000300: 1.406e1

GenotypeQuality
all individuals: 3015
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 210
bin: 2.5e0
variant carriers: 5

GenotypeQuality
all individuals: 3685
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 434
bin: 1.25e1
variant carriers: 8

GenotypeQuality
all individuals: 2169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2774
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 7895
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2739
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 3017
bin: 3.75e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.45602795573675e-4
allele num: 61812
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.340556697179151e-5
allele num: 10706
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.592863969417012e-4
allele num: 6278
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7874
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.252385082393755e-4
allele num: 9224
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.311537490532694e-5
allele num: 15844
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

QD
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.26e-2

DP
type: SiteQuality
SIO_000300: 1.979743e6

FS
type: SiteQuality
SIO_000300: 1.698e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 6.007e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-2

GenotypeQuality
all individuals: 2938
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2087
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4834
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5171
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3981
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.267265224685984e-5
allele num: 44106
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

FS
type: SiteQuality
SIO_000300: 3.341e0

MQ
type: SiteQuality
SIO_000300: 5.865e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

QD
type: SiteQuality
SIO_000300: 2.133e1

DP
type: SiteQuality
SIO_000300: 2.117085e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

GenotypeQuality
all individuals: 2198
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2087
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4834
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6736
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1595
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5771
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 754
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 12
allele frequency: 1.529831718510964e-3
allele num: 7844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.042483660130719e-4
allele num: 4896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.534530449371967e-5
allele num: 44106
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.117085e6

FS
type: SiteQuality
SIO_000300: 3.341e0

MQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

QD
type: SiteQuality
SIO_000300: 2.133e1

MQ
type: SiteQuality
SIO_000300: 5.865e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.420440552743193e-4
allele num: 14618
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

MQ
type: SiteQuality
SIO_000300: 6.041e1

DP
type: SiteQuality
SIO_000300: 2.013035e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.77e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 1.204e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

QD
type: SiteQuality
SIO_000300: 5.22e0

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

GenotypeQuality
all individuals: 2349
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2608
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4191
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1988
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2687
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1110
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3240
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2943
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2225
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3267
bin: 7.25e1
variant carriers: 4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

African
type: Population
allele count: 57
allele frequency: 6.336149399733215e-3
allele num: 8996
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 101
allele frequency: 1.715528076910011e-3
allele num: 58874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.631321370309951e-4
allele num: 6130
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 5.260389268805891e-4
allele num: 7604
num of homozygotes: 0

Latino
type: Population
allele count: 44
allele frequency: 4.2594385285576e-3
allele num: 10330
num of homozygotes: 0

South Asian
type: Population
allele count: 25
allele frequency: 1.710220276371597e-3
allele num: 14618
num of homozygotes: 2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

DP
type: SiteQuality
SIO_000300: 2.013035e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.77e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

FS
type: SiteQuality
SIO_000300: 1.204e0

QD
type: SiteQuality
SIO_000300: 5.22e0

MQ
type: SiteQuality
SIO_000300: 6.041e1

GenotypeQuality
all individuals: 2350
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2349
bin: 2.25e1
variant carriers: 42

GenotypeQuality
all individuals: 1110
bin: 1.75e1
variant carriers: 65

GenotypeQuality
all individuals: 9883
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2608
bin: 3.25e1
variant carriers: 21

GenotypeQuality
all individuals: 3267
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 1.25e1
variant carriers: 87

GenotypeQuality
all individuals: 1988
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3240
bin: 4.25e1
variant carriers: 7

South Asian
type: Population
allele count: 10
allele frequency: 6.840881105486386e-4
allele num: 14618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 1.645692158760891e-3
allele num: 10330
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.223210315695865e-4
allele num: 8996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 60
allele frequency: 1.019125590243571e-3
allele num: 58874
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.890583903208837e-4
allele num: 7604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.893964110929853e-4
allele num: 6130
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

FS
type: SiteQuality
SIO_000300: 1.204e0

QD
type: SiteQuality
SIO_000300: 5.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.77e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

DP
type: SiteQuality
SIO_000300: 2.013035e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQ
type: SiteQuality
SIO_000300: 6.041e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.794170601623807e-5
allele num: 58874
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

FS
type: SiteQuality
SIO_000300: 1.204e0

QD
type: SiteQuality
SIO_000300: 5.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.77e-2

DP
type: SiteQuality
SIO_000300: 2.013035e6

MQ
type: SiteQuality
SIO_000300: 6.041e1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.680542110358181e-5
allele num: 10330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.77e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

MQ
type: SiteQuality
SIO_000300: 6.041e1

FS
type: SiteQuality
SIO_000300: 1.204e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

QD
type: SiteQuality
SIO_000300: 5.22e0

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

DP
type: SiteQuality
SIO_000300: 2.013035e6

GenotypeQuality
all individuals: 3240
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2225
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1988
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2943
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3563
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3267
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2687
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8996
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.936108422071636e-4
allele num: 10330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.698542650405952e-5
allele num: 58874
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14618
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.77e-2

MQ
type: SiteQuality
SIO_000300: 6.041e1

QD
type: SiteQuality
SIO_000300: 5.22e0

FS
type: SiteQuality
SIO_000300: 1.204e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

DP
type: SiteQuality
SIO_000300: 2.013035e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

GenotypeQuality
all individuals: 3432
bin: 6.25e1
variant carriers: 892

GenotypeQuality
all individuals: 1855
bin: 2.75e1
variant carriers: 1084

GenotypeQuality
all individuals: 1607
bin: 2.5e0
variant carriers: 688

GenotypeQuality
all individuals: 1973
bin: 3.25e1
variant carriers: 946

GenotypeQuality
all individuals: 1233
bin: 7.75e1
variant carriers: 693

GenotypeQuality
all individuals: 851
bin: 9.25e1
variant carriers: 609

GenotypeQuality
all individuals: 1911
bin: 6.75e1
variant carriers: 853

GenotypeQuality
all individuals: 1264
bin: 7.25e1
variant carriers: 793

GenotypeQuality
all individuals: 1487
bin: 5.25e1
variant carriers: 1013

GenotypeQuality
all individuals: 30089
bin: 9.75e1
variant carriers: 27335

South Asian
type: Population
allele count: 7367
allele frequency: 4.692356687898089e-1
allele num: 15700
num of homozygotes: 1622

Latino
type: Population
allele count: 6615
allele frequency: 6.767955801104972e-1
allele num: 9774
num of homozygotes: 2143

European (Finnish)
type: Population
allele count: 3071
allele frequency: 5.046007229707525e-1
allele num: 6086
num of homozygotes: 738

African
type: Population
allele count: 2664
allele frequency: 2.961974649766511e-1
allele num: 8994
num of homozygotes: 350

East Asian
type: Population
allele count: 3429
allele frequency: 4.55862802446158e-1
allele num: 7522
num of homozygotes: 711

European (Non-Finnish)
type: Population
allele count: 27853
allele frequency: 4.716370902194527e-1
allele num: 59056
num of homozygotes: 5846

Other
type: Population
allele count: 394
allele frequency: 4.746987951807229e-1
allele num: 830
num of homozygotes: 78

MQ
type: SiteQuality
SIO_000300: 6.039e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

DP
type: SiteQuality
SIO_000300: 1.907558e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.541e1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.58e-2

GenotypeQuality
all individuals: 851
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1233
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1973
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2188
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2202
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2032
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15700
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.11185234600845e-4
allele num: 8994
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.329433661260303e-4
allele num: 7522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.907558e6

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.039e1

QD
type: SiteQuality
SIO_000300: 1.541e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.58e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

GenotypeQuality
all individuals: 1023
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 508
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 2465
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 386
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2821
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 963
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.37684152554041e-4
allele num: 14526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1402
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2020
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

FS
type: SiteQuality
SIO_000300: 2.5253e1

QD
type: SiteQuality
SIO_000300: 3.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.465e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.086725e6

GenotypeQuality
all individuals: 1528
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4106
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4500
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7979
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2694
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10397
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2247
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.657550140891762e-5
allele num: 60330
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.2666e1

DP
type: SiteQuality
SIO_000300: 1.965411e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

VQSLOD
type: SiteQuality
SIO_000300: -4.386e0

QD
type: SiteQuality
SIO_000300: 3.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQ
type: SiteQuality
SIO_000300: 5.813e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 3408
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4500
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6841
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4506
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2723
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10379
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 752
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.593246354566385e-5
allele num: 10424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7674
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 2.002469712645596e-4
allele num: 59926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.586797841954935e-4
allele num: 6302
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

MQ
type: SiteQuality
SIO_000300: 5.625e1

FS
type: SiteQuality
SIO_000300: 7.323e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

DP
type: SiteQuality
SIO_000300: 1.959787e6

QD
type: SiteQuality
SIO_000300: 6.62e0

MQRankSum
type: SiteQuality
SIO_000300: -1.713e0

GenotypeQuality
all individuals: 165
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2329
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5257
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10579
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2422
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3459
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16032
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.069976460517869e-4
allele num: 9346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.77e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.504e-1

DP
type: SiteQuality
SIO_000300: 1.654479e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

QD
type: SiteQuality
SIO_000300: 1.561e1

FS
type: SiteQuality
SIO_000300: 3.304e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.68e-1

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3646
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10675
bin: 9.75e1
variant carriers: 41

GenotypeQuality
all individuals: 25709
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2818
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1773
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1804
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2678
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 42
allele frequency: 2.595797280593325e-3
allele num: 16180
num of homozygotes: 1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

DP
type: SiteQuality
SIO_000300: 1.767573e6

MQ
type: SiteQuality
SIO_000300: 5.769e1

FS
type: SiteQuality
SIO_000300: 4.308e0

VQSLOD
type: SiteQuality
SIO_000300: -3.443e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

QD
type: SiteQuality
SIO_000300: 1.339e1

GenotypeQuality
all individuals: 1838
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2966
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2819
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6507
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28432
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.113216774666829e-5
allele num: 16358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65642
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.380000000000001e0

DP
type: SiteQuality
SIO_000300: 1.810751e6

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

MQ
type: SiteQuality
SIO_000300: 4.917e1

MQRankSum
type: SiteQuality
SIO_000300: -4.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3023
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1858
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2874
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017592564651921e-5
allele num: 66278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.887e1

DP
type: SiteQuality
SIO_000300: 1.826134e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

QD
type: SiteQuality
SIO_000300: 1.196e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

FS
type: SiteQuality
SIO_000300: 2.117e0

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.186e0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2878
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 17

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3028
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.413273001508296e-4
allele num: 66300
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.881e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 4.195e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

QD
type: SiteQuality
SIO_000300: 1.294e1

MQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 1.827547e6

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6684
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variant carriers: 0

GenotypeQuality
all individuals: 1859
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.192e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.174e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.377e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

MQ
type: SiteQuality
SIO_000300: 5.888e1

QD
type: SiteQuality
SIO_000300: 1.449e1

DP
type: SiteQuality
SIO_000300: 1.82819e6

GenotypeQuality
all individuals: 6689
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10737
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
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: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.788e1

VQSLOD
type: SiteQuality
SIO_000300: -1.41e0

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.15e-1

QD
type: SiteQuality
SIO_000300: 9.94e0

FS
type: SiteQuality
SIO_000300: 8.523999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

DP
type: SiteQuality
SIO_000300: 1.828365e6

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
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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: 6
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 1862
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GenotypeQuality
all individuals: 6695
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variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011413256241154e-5
allele num: 66414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.569e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.917e1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e-1

QD
type: SiteQuality
SIO_000300: 1.009e1

MQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

DP
type: SiteQuality
SIO_000300: 1.830216e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 289
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 70
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GenotypeQuality
all individuals: 29207
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 1861
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 10738
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3037
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.021659174499387e-4
allele num: 9788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505072092953252e-5
allele num: 66442
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.83119e6

MQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.04e-1

QD
type: SiteQuality
SIO_000300: 1.295e1

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29224
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504936190705514e-5
allele num: 66448
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

FS
type: SiteQuality
SIO_000300: 2.11e0

VQSLOD
type: SiteQuality
SIO_000300: -2.15e0

QD
type: SiteQuality
SIO_000300: 1.915e1

DP
type: SiteQuality
SIO_000300: 1.831394e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.902e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e0

GenotypeQuality
all individuals: 284
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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: 16
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009419482981733e-5
allele num: 66458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -7.190000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: 8.71e-1

FS
type: SiteQuality
SIO_000300: 7.937e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.831634e6

QD
type: SiteQuality
SIO_000300: 1.336e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 29240
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504302304591131e-5
allele num: 66476
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 896
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.832249e6

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.178e0

FS
type: SiteQuality
SIO_000300: 4.6e0

QD
type: SiteQuality
SIO_000300: 1.39e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.036e0

GenotypeQuality
all individuals: 3042
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 64
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GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 1870
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10740
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6730
bin: 6.75e1
variant carriers: 0

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

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

Latino
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allele frequency: 8.782715615668365e-5
allele num: 11386
num of homozygotes: 0

East Asian
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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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Other
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QD
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MQ
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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ClippingRankSum
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FS
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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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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503442884204829e-5
allele num: 66514
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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DP
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FS
type: SiteQuality
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QD
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BaseQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: -2.0e-4

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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Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

Latino
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allele frequency: 8.776549060909251e-5
allele num: 11394
num of homozygotes: 0

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

DP
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ClippingRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.942e1

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

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.515858461353456e-5
allele num: 66526
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

QD
type: SiteQuality
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DP
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SIO_000300: 1.834143e6

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 (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

MQRankSum
type: SiteQuality
SIO_000300: -1.619e0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.834015e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.241e1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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allele num: 8568
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.654e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-1

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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bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.012686769082765e-5
allele num: 66526
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele num: 6574
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
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FS
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QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.822e0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.834356e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 1
allele frequency: 1.022494887525562e-4
allele num: 9780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66492
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
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allele num: 16478
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

BaseQRankSum
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
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SIO_000300: 1.835115e6

GenotypeQuality
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variant carriers: 58

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 244

East Asian
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allele count: 4138
allele frequency: 4.851113716295428e-1
allele num: 8530
num of homozygotes: 1011

Latino
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allele frequency: 7.219880576044959e-1
allele num: 11388
num of homozygotes: 2977

African
type: Population
allele count: 2893
allele frequency: 2.959893595252711e-1
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num of homozygotes: 445

Other
type: Population
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allele frequency: 4.977728285077951e-1
allele num: 898
num of homozygotes: 102

European (Finnish)
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allele count: 3486
allele frequency: 5.312404754647974e-1
allele num: 6562
num of homozygotes: 942

European (Non-Finnish)
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allele count: 33612
allele frequency: 5.059914493888119e-1
allele num: 66428
num of homozygotes: 8512

South Asian
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allele count: 8064
allele frequency: 4.896174863387978e-1
allele num: 16470
num of homozygotes: 1970

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

BaseQRankSum
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.53e-2

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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
all individuals: 138
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variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.526717557251908e-4
allele num: 6550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65980
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
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Other
type: Population
allele count: 0
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African
type: Population
allele count: 0
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allele num: 9724
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

QD
type: SiteQuality
SIO_000300: 1.432e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

DP
type: SiteQuality
SIO_000300: 1.948046e6

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 2.387e0

GenotypeQuality
all individuals: 335
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1707
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33311
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.944543828264758e-5
allele num: 11180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65234
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.229256299938537e-4
allele num: 16270
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

QD
type: SiteQuality
SIO_000300: 1.539e1

DP
type: SiteQuality
SIO_000300: 1.895284e6

FS
type: SiteQuality
SIO_000300: 5.964e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 400
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7133
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variant carriers: 0

GenotypeQuality
all individuals: 777
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variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
all individuals: 1858
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 662
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variant carriers: 0

GenotypeQuality
all individuals: 95
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.037559659680432e-4
allele num: 9638
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.06597988717194e-5
allele num: 65232
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.66e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.488e0

FS
type: SiteQuality
SIO_000300: 1.594e0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

DP
type: SiteQuality
SIO_000300: 1.89478e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 634
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variant carriers: 0

GenotypeQuality
all individuals: 710
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GenotypeQuality
all individuals: 1077
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variant carriers: 0

GenotypeQuality
all individuals: 8158
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variant carriers: 1

GenotypeQuality
all individuals: 1629
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11122
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542590935735662e-5
allele num: 64826
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.934e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.06e-1

DP
type: SiteQuality
SIO_000300: 1.861468e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.078e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.198e1

GenotypeQuality
all individuals: 442
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21019
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
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variant carriers: 0

GenotypeQuality
all individuals: 4206
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variant carriers: 0

GenotypeQuality
all individuals: 967
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variant carriers: 0

GenotypeQuality
all individuals: 8558
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 386
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.169773044250032e-5
allele num: 63096
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.294e0

MQRankSum
type: SiteQuality
SIO_000300: -1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.51e-1

MQ
type: SiteQuality
SIO_000300: 4.712e1

DP
type: SiteQuality
SIO_000300: 1.667228e6

QD
type: SiteQuality
SIO_000300: 5.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.67e-1

FS
type: SiteQuality
SIO_000300: 1.1225e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

GenotypeQuality
all individuals: 18545
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
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variant carriers: 0

GenotypeQuality
all individuals: 1066
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1348
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variant carriers: 0

GenotypeQuality
all individuals: 8125
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10882
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15982
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.58473582453805e-5
allele num: 63102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7800
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 2.74e0

VQSLOD
type: SiteQuality
SIO_000300: -9.360000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.636798e6

MQ
type: SiteQuality
SIO_000300: 4.41e1

GenotypeQuality
all individuals: 861
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
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variant carriers: 0

GenotypeQuality
all individuals: 2829
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8113
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 305
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variant carriers: 0

GenotypeQuality
all individuals: 11763
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variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.371861858034918e-5
allele num: 15694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.445e0

MQRankSum
type: SiteQuality
SIO_000300: 5.16e-1

MQ
type: SiteQuality
SIO_000300: 5.918e1

FS
type: SiteQuality
SIO_000300: 4.039e0

QD
type: SiteQuality
SIO_000300: 9.93e0

DP
type: SiteQuality
SIO_000300: 1.552223e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.16e-1

GenotypeQuality
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7457
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8110
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 902
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 429
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variant carriers: 0

GenotypeQuality
all individuals: 2183
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.106684373616645e-4
allele num: 9036
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59854
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.403e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.081e0

DP
type: SiteQuality
SIO_000300: 1.509027e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.914e0

GenotypeQuality
all individuals: 504
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 318
bin: 8.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 13883
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1087
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3818
num of homozygotes: 0

African
type: Population
allele count: 40
allele frequency: 7.022471910112359e-3
allele num: 5696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30406
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 7.27802037845706e-4
allele num: 4122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4112
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.080336e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

FS
type: SiteQuality
SIO_000300: 2.502e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.26e-2

QD
type: SiteQuality
SIO_000300: 1.319e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

GenotypeQuality
all individuals: 1303
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8048
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 502
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4128
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.439024390243902e-4
allele num: 4100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30406
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.26e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.084409e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.49e1

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 507
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GenotypeQuality
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GenotypeQuality
all individuals: 1235
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
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variant carriers: 0

GenotypeQuality
all individuals: 4819
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.428363283147159e-4
allele num: 4118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30552
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

DP
type: SiteQuality
SIO_000300: 1.086362e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.285e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.249e1

GenotypeQuality
all individuals: 1579
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
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variant carriers: 0

GenotypeQuality
all individuals: 8053
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variant carriers: 1

GenotypeQuality
all individuals: 4844
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 506
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variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30596
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.401536983669548e-4
allele num: 4164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10478
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.086e1

DP
type: SiteQuality
SIO_000300: 1.08792e6

VQSLOD
type: SiteQuality
SIO_000300: -1.83e0

MQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

GenotypeQuality
all individuals: 18380
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8057
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 312
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.520605112154408e-5
allele num: 30672
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10498
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.621e0

FS
type: SiteQuality
SIO_000300: 1.836e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.425e1

DP
type: SiteQuality
SIO_000300: 1.094122e6