5-169028317-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028317
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028317
    reference: chr 5
allele count: 2
allele frequency: 1.650273945474949e-5
allele num: 121192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1138G>C
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1358G>C
  hgvsp: ENSP00000265295.4:p.Arg453Pro
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5681
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg453Pro
num of homozygotes: 1
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10400
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

5-169028317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028317
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028317
    reference: chr 5
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1358G>A
  hgvsp: ENSP00000265295.4:p.Arg453His
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1138G>A
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5681
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg453His
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

5-169028320-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028320
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028320
    reference: chr 5
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1361A>T
  hgvsp: ENSP00000265295.4:p.Glu454Val
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1141A>T
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7410
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36526
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2526
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genotype quality: GenotypeQuality
  all individuals: 2706
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5682
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu454Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10400
  num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

5-169028322-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028322
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028322
    reference: chr 5
allele count: 6
allele frequency: 4.947963912849862e-5
allele num: 121262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1143G>A
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1363G>A
  hgvsp: ENSP00000265295.4:p.Val455Met
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7411
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36508
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5690
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val455Met
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10402
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

5-169028324-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028324
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028324
    reference: chr 5
allele count: 329
allele frequency: 2.712686136442341e-3
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1365G>A
  hgvsp: ENST00000265295.4:c.1365G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1145G>A
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
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genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 36940
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5964
  bin: 9.75e1
  variant carriers: 320
hgvs: p.Val455Val
num of homozygotes: 9
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16478
  num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-169028327-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028327
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028327
    reference: chr 5
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1368C>G
  hgvsp: ENST00000265295.4:c.1368C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1148C>G
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu456Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-169028335-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028335
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028335
    reference: chr 5
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1156A>C
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1376A>C
  hgvsp: ENSP00000265295.4:p.Asp459Ala
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7430
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp459Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10402
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

5-169028335-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028335
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028335
    reference: chr 5
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1376A>G
  hgvsp: ENSP00000265295.4:p.Asp459Gly
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1156A>G
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 7.25e1
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1287
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 5809
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 7430
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp459Gly
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8652
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

5-169028342-C-CACCGCTAAAGATGCATGTGTCAACAACAGTGCTCTCGGGGGAGAAGTTTATCGATT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028342
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028398
    reference: chr 5
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: CACCGCTAAAGATGCATGTGTCAACAACAGTGCTCTCGGGGGAGAAGTTTATCGATT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsp: ENSP00000265295.4:p.Pro482LeufsTer32
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36888
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36421
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 7431
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1287
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genotype quality: GenotypeQuality
  all individuals: 2722
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro482LeufsTer32
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

5-169028342-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028342
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028342
    reference: chr 5
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1163C>T
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1383C>T
  hgvsp: ENST00000265295.4:c.1383C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 789
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 11843
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genotype depth: GenotypeDepth
  all individuals: 479
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr461Thr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-169028345-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028345
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028345
    reference: chr 5
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1166C>T
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1386C>T
  hgvsp: ENST00000265295.4:c.1386C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2534
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  variant carriers: 0
hgvs: p.Thr462Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66700
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

5-169028346-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028346
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028346
    reference: chr 5
allele count: 14
allele frequency: 1.15363064042981e-4
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1167G>A
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1387G>A
  hgvsp: ENSP00000265295.4:p.Ala463Thr
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
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genotype depth: GenotypeDepth
  all individuals: 5467
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 5
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1014
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hgvs: p.Ala463Thr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

5-169028349-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028349
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028349
    reference: chr 5
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1390A>G
  hgvsp: ENSP00000265295.4:p.Lys464Glu
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1170A>G
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5827
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36419
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys464Glu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66716
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

5-169028353-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028353
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028353
    reference: chr 5
allele count: 3
allele frequency: 2.471576866040534e-5
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1394A>G
  hgvsp: ENSP00000265295.4:p.Asp465Gly
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1174A>G
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5832
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp465Gly
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-169028357-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028357
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028357
    reference: chr 5
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1398A>G
  hgvsp: ENST00000265295.4:c.1398A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1178A>G
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5833
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala466Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

5-169028362-TCAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028362
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028359
    reference: chr 5
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1409_1411delACA
  hgvsp: ENSP00000265295.4:p.Asn470del
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1189_*1191delACA
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36419
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7428
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5832
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn470del
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66728
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: TCAA
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

5-169028368-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028368
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028368
    reference: chr 5
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1409A>G
  hgvsp: ENSP00000265295.4:p.Asn470Ser
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1189A>G
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 36415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5833
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn470Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66732
  num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

5-169028369-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028369
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028369
    reference: chr 5
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1190C>T
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1410C>T
  hgvsp: ENST00000265295.4:c.1410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11871
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genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
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genotype depth: GenotypeDepth
  all individuals: 36839
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2539
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genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5833
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Asn470Asn
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

5-169028378-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028378
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028378
    reference: chr 5
allele count: 3
allele frequency: 2.471291826614165e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1419C>T
  hgvsp: ENST00000265295.4:c.1419C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1199C>T
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7431
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genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu473Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS

5-169028379-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028379
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028379
    reference: chr 5
allele count: 6
allele frequency: 4.942339373970346e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1420G>A
  hgvsp: ENSP00000265295.4:p.Gly474Arg
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1200G>A
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly474Arg
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

5-169028379-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028379
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028379
    reference: chr 5
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1200G>C
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1420G>C
  hgvsp: ENSP00000265295.4:p.Gly474Arg
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7432
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly474Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.498486528606108e-5
  allele num: 66734
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-169028380-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028380
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028380
    reference: chr 5
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1201G>C
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1421G>C
  hgvsp: ENSP00000265295.4:p.Gly474Ala
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5845
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7435
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly474Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

5-169028382-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028382
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028382
    reference: chr 5
allele count: 191
allele frequency: 1.573285448345167e-3
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1203G>A
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1423G>A
  hgvsp: ENSP00000265295.4:p.Gly475Arg
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 9.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3401
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7415
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2724
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6013
  bin: 9.75e1
  variant carriers: 191
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly475Arg
num of homozygotes: 0
population: Other
  type: Population
  allele count: 3
  allele frequency: 3.303964757709251e-3
  allele num: 908
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-169028383-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028383
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028383
    reference: chr 5
allele count: 15
allele frequency: 1.235564488229189e-4
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1204G>A
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1424G>A
  hgvsp: ENSP00000265295.4:p.Gly475Glu
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 6016
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly475Glu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11576
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

5-169028384-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028384
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028383
    reference: chr 5
allele count: 7
allele frequency: 5.766062602965403e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1426delG
  hgvsp: ENSP00000265295.4:p.Glu476LysfsTer19
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1206delG
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6022
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu476LysfsTer19
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: AG
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

5-169028388-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028388
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028388
    reference: chr 5
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1209G>T
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1429G>T
  hgvsp: ENSP00000265295.4:p.Val477Phe
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2724
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6022
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val477Phe
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ

5-169028395-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028395
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028395
    reference: chr 5
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1216G>A
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1436G>A
  hgvsp: ENSP00000265295.4:p.Arg479Gln
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7409
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3401
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2723
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2522
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genotype quality: GenotypeQuality
  all individuals: 6024
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg479Gln
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

5-169028397-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028397
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028397
    reference: chr 5
allele count: 65
allele frequency: 5.354200988467875e-4
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1218T>G
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1438T>G
  hgvsp: ENSP00000265295.4:p.Leu480Val
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 201
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  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 11792
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 337
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  variant carriers: 4
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 3399
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genotype quality: GenotypeQuality
  all individuals: 6088
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  variant carriers: 65
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7409
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
hgvs: p.Leu480Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 63
  allele frequency: 7.281553398058253e-3
  allele num: 8652
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

5-169028401-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028401
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028401
    reference: chr 5
allele count: 46
allele frequency: 3.789376565177277e-4
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1442C>T
  hgvsp: ENSP00000265295.4:p.Pro481Leu
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1222C>T
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 36614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 153
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  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 11786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12
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genotype quality: GenotypeQuality
  all individuals: 6122
  bin: 9.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 2714
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2516
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7407
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro481Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 5
  allele frequency: 7.562008469449486e-4
  allele num: 6612
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

5-169028402-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028402
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028402
    reference: chr 5
allele count: 16
allele frequency: 1.317935454111135e-4
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1223G>A
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1443G>A
  hgvsp: ENST00000265295.4:c.1443G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 153
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6135
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7411
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro481Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

5-169028403-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028403
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028403
    reference: chr 5
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1444C>T
  hgvsp: ENSP00000265295.4:p.Pro482Ser
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1224C>T
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6135
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 36177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro482Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

5-169028403-C-CTAAAGATGCATGTGTCAACAACAGTGCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028403
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028431
    reference: chr 5
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: CTAAAGATGCATGTGTCAACAACAGTGCT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsp: ENSP00000265295.4:p.Pro482LeufsTer20
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36177
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 6135
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro482LeufsTer20
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-169028404-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028404
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028404
    reference: chr 5
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1225C>T
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1445C>T
  hgvsp: ENSP00000265295.4:p.Pro482Leu
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11786
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36177
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 6134
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genotype quality: GenotypeQuality
  all individuals: 1015
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genotype quality: GenotypeQuality
  all individuals: 7413
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro482Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

5-169028405-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028405
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028405
    reference: chr 5
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1446T>A
  hgvsp: ENST00000265295.4:c.1446T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1226T>A
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
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genotype depth: GenotypeDepth
  all individuals: 676
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2721
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3391
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6135
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro482Pro
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.155802126675913e-4
  allele num: 8652
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-169028407-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028407
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028407
    reference: chr 5
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1228A>C
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1448A>C
  hgvsp: ENSP00000265295.4:p.Gln483Pro
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 848
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genotype depth: GenotypeDepth
  all individuals: 355
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1629
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 288
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genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 202
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7416
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genotype quality: GenotypeQuality
  all individuals: 6139
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  variant carriers: 1
hgvs: p.Gln483Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

5-169028414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028414
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028414
    reference: chr 5
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1235G>A
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1455G>A
  hgvsp: ENST00000265295.4:c.1455G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
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genotype depth: GenotypeDepth
  all individuals: 355
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 229
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 11789
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 509
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Glu485Glu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

5-169028415-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028415
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028415
    reference: chr 5
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1236G>C
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1456G>C
  hgvsp: ENSP00000265295.4:p.Glu486Gln
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
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genotype depth: GenotypeDepth
  all individuals: 5473
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 152
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Glu486Gln
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

5-169028421-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028421
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028421
    reference: chr 5
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1242C>T
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1462C>T
  hgvsp: ENSP00000265295.4:p.Gln488Ter
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln488Ter
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

5-169028431-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028431
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028431
    reference: chr 5
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1252C>T
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1472C>T
  hgvsp: ENSP00000265295.4:p.Pro491Leu
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7417
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6146
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro491Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

5-169028457-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028457
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028457
    reference: chr 5
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1498C>G
  hgvsp: ENSP00000265295.4:p.Gln500Glu
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1278C>G
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6156
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2722
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7405
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln500Glu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10404
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

5-169028462-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028462
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028462
    reference: chr 5
allele count: 6
allele frequency: 4.942339373970346e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1283A>G
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1503A>G
  hgvsp: ENST00000265295.4:c.1503A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5499
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1287
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genotype quality: GenotypeQuality
  all individuals: 18
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genotype quality: GenotypeQuality
  all individuals: 2728
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 36080
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu501Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

5-169028474-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028474
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028474
    reference: chr 5
allele count: 8
allele frequency: 6.589785831960461e-5
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1295T>C
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1515T>C
  hgvsp: ENST00000265295.4:c.1515T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 850
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2530
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1020
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36044
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genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val505Val
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 8
  allele frequency: 4.844961240310077e-4
  allele num: 16512
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

5-169028476-CTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028476
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028474
    reference: chr 5
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1302_*1303delTA
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1522_1523delTA
  hgvsp: ENSP00000265295.4:p.Tyr508HisfsTer33
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6176
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr508HisfsTer33
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: CTA
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD

5-169028478-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028478
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028478
    reference: chr 5
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1519A>G
  hgvsp: ENSP00000265295.4:p.Ile507Val
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1299A>G
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6178
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7401
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile507Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

5-169028479-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028479
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028479
    reference: chr 5
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1520T>C
  hgvsp: ENSP00000265295.4:p.Ile507Thr
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1300T>C
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7403
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6178
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile507Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.155802126675913e-4
  allele num: 8652
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-169028481-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028481
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028481
    reference: chr 5
allele count: 80264
allele frequency: 6.61436529650262e-1
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1302T>C
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1522T>C
  hgvsp: ENSP00000265295.4:p.Tyr508His
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 7.75e1
  variant carriers: 4235
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 658
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 5.75e1
  variant carriers: 3472
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 8.25e1
  variant carriers: 3801
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 6.25e1
  variant carriers: 3870
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 7.25e1
  variant carriers: 4315
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 5.25e1
  variant carriers: 2800
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 6.75e1
  variant carriers: 4135
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 2.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 8.75e1
  variant carriers: 3378
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.25e1
  variant carriers: 305
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 4.75e1
  variant carriers: 2002
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.25e1
  variant carriers: 1252
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 9.25e1
  variant carriers: 2821
genotype depth: GenotypeDepth
  all individuals: 16187
  bin: 9.75e1
  variant carriers: 16180
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 2.75e1
  variant carriers: 131
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.25e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 6.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.25e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 6354
  bin: 6.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 53233
  bin: 9.75e1
  variant carriers: 53198
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 8
hgvs: p.Tyr508His
num of homozygotes: 26825
population: South Asian
  type: Population
  allele count: 11139
  allele frequency: 6.747637509086504e-1
  allele num: 16508
  num of homozygotes: 3823
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

5-169028482-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028482
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028482
    reference: chr 5
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1303A>G
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1523A>G
  hgvsp: ENSP00000265295.4:p.Tyr508Cys
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46715
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr508Cys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP

5-169028493-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028493
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028493
    reference: chr 5
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1534G>C
  hgvsp: ENSP00000265295.4:p.Val512Leu
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1314G>C
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8772
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val512Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-169028497-GTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028497
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028495
    reference: chr 5
allele count: 9
allele frequency: 7.413509060955519e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1545_1546delTC
  hgvsp: ENSP00000265295.4:p.Pro516SerfsTer25
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1325_*1326delTC
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10882
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46765
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 823
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  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro516SerfsTer25
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 4.495729057395475e-5
  allele num: 66730
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: GTC
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

5-169028500-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028500
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028500
    reference: chr 5
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1541T>A
  hgvsp: ENSP00000265295.4:p.Leu514His
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1321T>A
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46771
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 8773
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 811
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu514His
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16504
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

5-169028501-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028501
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028501
    reference: chr 5
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1322C>G
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1542C>G
  hgvsp: ENST00000265295.4:c.1542C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8774
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46778
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu514Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

5-169028503-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028503
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028503
    reference: chr 5
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1544C>G
  hgvsp: ENSP00000265295.4:p.Ser515Cys
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1324C>G
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8771
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 46782
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser515Cys
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

5-169028505-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028505
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028505
    reference: chr 5
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1546C>T
  hgvsp: ENSP00000265295.4:p.Pro516Ser
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1326C>T
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro516Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

5-169028513-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028513
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028513
    reference: chr 5
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1334A>G
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1554A>G
  hgvsp: ENST00000265295.4:c.1554A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1518
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genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys518Lys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

5-169028514-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028514
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028514
    reference: chr 5
allele count: 506
allele frequency: 4.168382898097043e-3
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1335A>T
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1555A>T
  hgvsp: ENSP00000265295.4:p.Asn519Tyr
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 59
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  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 31871
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
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  variant carriers: 36
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10876
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 187
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 9.75e1
  variant carriers: 503
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn519Tyr
num of homozygotes: 3
population: African
  type: Population
  allele count: 10
  allele frequency: 9.609840476648087e-4
  allele num: 10406
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

5-169028522-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028522
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028522
    reference: chr 5
allele count: 149
allele frequency: 1.227570070358714e-3
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1343C>T
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1563C>T
  hgvsp: ENST00000265295.4:c.1563C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 32137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8834
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 9.75e1
  variant carriers: 148
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro521Pro
num of homozygotes: 1
population: African
  type: Population
  allele count: 127
  allele frequency: 1.220449740534307e-2
  allele num: 10406
  num of homozygotes: 1
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

5-169028523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028523
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028523
    reference: chr 5
allele count: 21
allele frequency: 1.730046793646609e-4
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1564G>A
  hgvsp: ENSP00000265295.4:p.Val522Met
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1344G>A
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32226
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47191
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8849
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 151
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genotype quality: GenotypeQuality
  all individuals: 303
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 600
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val522Met
num of homozygotes: 1
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.646031471554557e-5
  allele num: 11566
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

5-169028525-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028525
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028525
    reference: chr 5
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1566G>A
  hgvsp: ENST00000265295.4:c.1566G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1346G>A
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 600
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 282
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val522Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

5-169028529-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028529
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028529
    reference: chr 5
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1570A>G
  hgvsp: ENSP00000265295.4:p.Met524Val
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1350A>G
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met524Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 1.921968095329617e-4
  allele num: 10406
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-169028539-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028539
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028539
    reference: chr 5
allele count: 3
allele frequency: 2.471821237888076e-5
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1580A>C
  hgvsp: ENSP00000265295.4:p.Lys527Thr
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1360A>C
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys527Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-169028543-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028543
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028543
    reference: chr 5
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1584G>A
  hgvsp: ENST00000265295.4:c.1584G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1364G>A
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8841
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 176
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys528Lys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11566
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

5-169028548-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028548
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028548
    reference: chr 5
allele count: 4
allele frequency: 3.296359171295305e-5
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1589A>G
  hgvsp: ENSP00000265295.4:p.Lys530Arg
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1369A>G
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 8833
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1828
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genotype quality: GenotypeQuality
  all individuals: 175
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 594
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys530Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

5-169028564-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028564
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028564
    reference: chr 5
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1605C>T
  hgvsp: ENST00000265295.4:c.1605C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1385C>T
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu535Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11552
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ

5-169028564-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028564
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028562
    reference: chr 5
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1607_1608delTA
  hgvsp: ENSP00000265295.4:p.Ile536ArgfsTer5
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1387_*1388delTA
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8802
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile536ArgfsTer5
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11552
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: CAT
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

5-169028565-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028565
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028565
    reference: chr 5
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1606A>T
  hgvsp: ENSP00000265295.4:p.Ile536Leu
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1386A>T
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8799
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile536Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8650
  num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

5-169028567-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028567
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028567
    reference: chr 5
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1608A>G
  hgvsp: ENSP00000265295.4:p.Ile536Met
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1388A>G
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile536Met
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10386
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-169028570-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028570
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028570
    reference: chr 5
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1611A>C
  hgvsp: ENST00000265295.4:c.1611A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1391A>C
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10918
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly537Gly
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11546
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

5-169028571-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028571
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028571
    reference: chr 5
allele count: 1
allele frequency: 8.25695648583932e-6
allele num: 121110
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1612G>A
  hgvsp: ENSP00000265295.4:p.Val538Ile
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1392G>A
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47028
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val538Ile
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

5-169028575-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028575
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028575
    reference: chr 5
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1616C>G
  hgvsp: ENSP00000265295.4:p.Pro539Arg
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1396C>G
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro539Arg
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

5-169028576-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028576
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028576
    reference: chr 5
allele count: 5
allele frequency: 4.134008003439494e-5
allele num: 120948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1397C>T
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1617C>T
  hgvsp: ENST00000265295.4:c.1617C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 10844
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
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  variant carriers: 0
hgvs: p.Pro539Pro
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

5-169028582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028582
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028582
    reference: chr 5
allele count: 1
allele frequency: 8.276501357346223e-6
allele num: 120824
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1623C>T
  hgvsp: ENST00000265295.4:c.1623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1403C>T
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 220
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp541Asp
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66368
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-169028583-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028583
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028583
    reference: chr 5
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1624G>A
  hgvsp: ENSP00000265295.4:p.Ala542Thr
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1404G>A
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
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genotype depth: GenotypeDepth
  all individuals: 10730
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala542Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16474
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

5-169028590-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028590
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028590
    reference: chr 5
allele count: 1
allele frequency: 8.312275568559649e-6
allele num: 120304
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1631C>T
  hgvsp: ENSP00000265295.4:p.Ala544Val
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1411C>T
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 211
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala544Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8588
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

5-169028600-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028600
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028600
    reference: chr 5
allele count: 1
allele frequency: 8.421903687109433e-6
allele num: 118738
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1641A>G
  hgvsp: ENST00000265295.4:c.1641A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1421A>G
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Glu547Glu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10170
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

5-169028623-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028623
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028623
    reference: chr 5
allele count: 1
allele frequency: 9.128418592762991e-6
allele num: 109548
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1664C>G
  hgvsp: ENSP00000265295.4:p.Ser555Cys
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1444C>G
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 375
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  variant carriers: 0
hgvs: p.Ser555Cys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15276
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

5-169028623-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028623
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028623
    reference: chr 5
allele count: 2
allele frequency: 1.825683718552598e-5
allele num: 109548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1444C>T
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1664C>T
  hgvsp: ENSP00000265295.4:p.Ser555Phe
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5726
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser555Phe
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9322
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/5-169028627-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 169028627
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 169028627
    reference: chr 5
allele count: 3
allele frequency: 2.814945483889129e-5
allele num: 106574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000425357
  ensembl transcript: ENST00000507232
  gene symbol: SPDL1
  hgvsc: ENST00000507232.1:c.*1448C>A
  variant of: http://identifiers.org/hgnc/26010
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000040275
  ensembl protein: ENSP00000265295
  ensembl transcript: ENST00000265295
  gene symbol: SPDL1
  hgvsc: ENST00000265295.4:c.1668C>A
  hgvsp: ENST00000265295.4:c.1668C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26010
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22935
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12817
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34202
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 1
hgvs: c.1668C>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.218175173589962e-4
allele num: 16418
num of homozygotes: 1

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.39e0

FS
type: SiteQuality
SIO_000300: 4.079e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e0

MQRankSum
type: SiteQuality
SIO_000300: 1.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

QD
type: SiteQuality
SIO_000300: 1.532e1

DP
type: SiteQuality
SIO_000300: 1.67161e6

South Asian
type: Population
allele count: 1
allele frequency: 6.090875867949811e-5
allele num: 16418
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

DP
type: SiteQuality
SIO_000300: 1.67161e6

QD
type: SiteQuality
SIO_000300: 1.532e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.079e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e0

MQRankSum
type: SiteQuality
SIO_000300: 1.97e0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.67249e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.204e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.662e0

QD
type: SiteQuality
SIO_000300: 1.253e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

FS
type: SiteQuality
SIO_000300: 7.496e0

MQRankSum
type: SiteQuality
SIO_000300: 2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.89e-1

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

East Asian
type: Population
allele count: 4
allele frequency: 4.622140050843541e-4
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.515e0

FS
type: SiteQuality
SIO_000300: 1.824e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.67313e6

QD
type: SiteQuality
SIO_000300: 1.197e1

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 310
allele frequency: 2.980196116131513e-2
allele num: 10402
num of homozygotes: 9

Latino
type: Population
allele count: 7
allele frequency: 6.051175656984786e-4
allele num: 11568
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.5001500150015e-4
allele num: 66660
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.914e1

FS
type: SiteQuality
SIO_000300: 5.679999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.757e0

QD
type: SiteQuality
SIO_000300: 1.226e1

DP
type: SiteQuality
SIO_000300: 1.691977e6

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.99e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

QD
type: SiteQuality
SIO_000300: 1.568e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.806e0

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

DP
type: SiteQuality
SIO_000300: 1.682077e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e-1

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999220202747286e-5
allele num: 66684
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.351e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 4.36e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

DP
type: SiteQuality
SIO_000300: 1.68325e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.27e-1

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.351e1

MQ
type: SiteQuality
SIO_000300: 5.92e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 4.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

DP
type: SiteQuality
SIO_000300: 1.68325e6

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: -9.203e-1

FS
type: SiteQuality
SIO_000300: 3.653e0

MQRankSum
type: SiteQuality
SIO_000300: -9.46e-1

DP
type: SiteQuality
SIO_000300: 1.683491e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.67e-1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.203e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.99e0

FS
type: SiteQuality
SIO_000300: 3.653e0

DP
type: SiteQuality
SIO_000300: 1.683491e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.44e0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.056e0

DP
type: SiteQuality
SIO_000300: 1.683796e6

QD
type: SiteQuality
SIO_000300: 1.463e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.864e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.95e-1

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

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

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

African
type: Population
allele count: 12
allele frequency: 1.153402537485583e-3
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998410842253606e-5
allele num: 66702
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.203e1

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 1.684629e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.435e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

FS
type: SiteQuality
SIO_000300: 1.705e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.24e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

DP
type: SiteQuality
SIO_000300: 1.68457e6

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-2

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

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

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 1.684871e6

FS
type: SiteQuality
SIO_000300: 5.618e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.371e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -5.496e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

MQ
type: SiteQuality
SIO_000300: 5.893e1

QD
type: SiteQuality
SIO_000300: 8.960000000000001e0

FS
type: SiteQuality
SIO_000300: 3.179e0

MQRankSum
type: SiteQuality
SIO_000300: -1.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.283e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

DP
type: SiteQuality
SIO_000300: 1.684988e6

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.685117e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.151e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

MQRankSum
type: SiteQuality
SIO_000300: -2.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

MQ
type: SiteQuality
SIO_000300: 5.769e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.836e1

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.685246e6

MQ
type: SiteQuality
SIO_000300: 5.935e1

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

QD
type: SiteQuality
SIO_000300: 1.598e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.69e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.127e1

MQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.221e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.685359e6

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.685703e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 9.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.066e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

QD
type: SiteQuality
SIO_000300: 1.257e1

FS
type: SiteQuality
SIO_000300: 2.21e0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.777675063554426e-4
allele num: 8654
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 1.739e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

QD
type: SiteQuality
SIO_000300: 1.247e1

DP
type: SiteQuality
SIO_000300: 1.686453e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.18e-1

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.739e0

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 1.686453e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.247e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.18e-1

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.68627e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.86e0

FS
type: SiteQuality
SIO_000300: 1.1716e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: -2.254e0

QD
type: SiteQuality
SIO_000300: 1.186e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

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

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

European (Finnish)
type: Population
allele count: 45
allele frequency: 6.805807622504537e-3
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 139
allele frequency: 2.082833852793095e-3
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.698247e6

FS
type: SiteQuality
SIO_000300: 5.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.5e0

QD
type: SiteQuality
SIO_000300: 1.324e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.45e0

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

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

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

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

African
type: Population
allele count: 15
allele frequency: 1.441476071497213e-3
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.346e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 5.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.696387e6

QD
type: SiteQuality
SIO_000300: 1.329e1

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

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.048940570024275e-4
allele num: 66734
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.57e-1

QD
type: SiteQuality
SIO_000300: 1.637e1

MQ
type: SiteQuality
SIO_000300: 6.073e1

DP
type: SiteQuality
SIO_000300: 1.696535e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.298e0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -7.926e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e0

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

QD
type: SiteQuality
SIO_000300: 1.54e1

FS
type: SiteQuality
SIO_000300: 1.612e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.447e0

DP
type: SiteQuality
SIO_000300: 1.696555e6

MQ
type: SiteQuality
SIO_000300: 5.887e1

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

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

European (Non-Finnish)
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East Asian
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African
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Latino
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InbreedingCoeff
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MQ
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VQSLOD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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DP
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QD
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African
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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Other
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MQ
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BaseQRankSum
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VQSLOD
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DP
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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QD
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European (Non-Finnish)
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Latino
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African
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Other
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South Asian
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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MQ
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DP
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ClippingRankSum
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BaseQRankSum
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QD
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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East Asian
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Other
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BaseQRankSum
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QD
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MQ
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FS
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InbreedingCoeff
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DP
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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South Asian
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Other
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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ClippingRankSum
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DP
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QD
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ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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African
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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QD
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DP
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FS
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MQRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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African
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East Asian
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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VQSLOD
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QD
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ReadPosRankSum
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MQ
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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DP
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Latino
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African
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Other
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South Asian
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European (Finnish)
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European (Non-Finnish)
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InbreedingCoeff
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QD
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VQSLOD
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MQRankSum
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DP
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MQ
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BaseQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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East Asian
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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MQRankSum
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QD
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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East Asian
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African
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Other
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Latino
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European (Non-Finnish)
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MQ
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VQSLOD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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QD
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FS
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ClippingRankSum
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European (Non-Finnish)
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East Asian
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Latino
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African
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South Asian
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European (Finnish)
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ReadPosRankSum
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MQ
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MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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ClippingRankSum
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FS
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InbreedingCoeff
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DP
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African
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Other
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East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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QD
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DP
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Other
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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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Latino
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FS
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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DP
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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QD
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European (Finnish)
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Other
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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ReadPosRankSum
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MQRankSum
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VQSLOD
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DP
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MQ
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FS
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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South Asian
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Other
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European (Non-Finnish)
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East Asian
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African
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VQSLOD
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ClippingRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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MQ
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FS
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MQRankSum
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QD
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ReadPosRankSum
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Latino
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East Asian
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 1.705472e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e0

QD
type: SiteQuality
SIO_000300: 1.773e1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.464e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

DP
type: SiteQuality
SIO_000300: 1.705782e6

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.859e1

FS
type: SiteQuality
SIO_000300: 6.558e0

QD
type: SiteQuality
SIO_000300: 2.688e1

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.127e0

FS
type: SiteQuality
SIO_000300: 5.453e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.28e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

MQRankSum
type: SiteQuality
SIO_000300: 1.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.17e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

DP
type: SiteQuality
SIO_000300: 1.705948e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.438e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

DP
type: SiteQuality
SIO_000300: 1.706075e6

VQSLOD
type: SiteQuality
SIO_000300: 7.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e-1

East Asian
type: Population
allele count: 6350
allele frequency: 7.351238712664969e-1
allele num: 8638
num of homozygotes: 2339

African
type: Population
allele count: 6026
allele frequency: 5.790889871228138e-1
allele num: 10406
num of homozygotes: 1732

European (Non-Finnish)
type: Population
allele count: 45619
allele frequency: 6.837585059504182e-1
allele num: 66718
num of homozygotes: 15628

European (Finnish)
type: Population
allele count: 4363
allele frequency: 6.600605143721634e-1
allele num: 6610
num of homozygotes: 1441

Other
type: Population
allele count: 618
allele frequency: 6.806167400881057e-1
allele num: 908
num of homozygotes: 218

Latino
type: Population
allele count: 6149
allele frequency: 5.319204152249135e-1
allele num: 11560
num of homozygotes: 1644

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

DP
type: SiteQuality
SIO_000300: 4.889195e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.72e0

QD
type: SiteQuality
SIO_000300: 2.611e1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.457e1

FS
type: SiteQuality
SIO_000300: 5.007e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: -1.36e-1

DP
type: SiteQuality
SIO_000300: 1.678461e6

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

FS
type: SiteQuality
SIO_000300: 4.417e0

VQSLOD
type: SiteQuality
SIO_000300: 9.02e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

DP
type: SiteQuality
SIO_000300: 1.678043e6

MQRankSum
type: SiteQuality
SIO_000300: -1.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.867e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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

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

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.941e1

QD
type: SiteQuality
SIO_000300: 1.645e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

DP
type: SiteQuality
SIO_000300: 1.677852e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

FS
type: SiteQuality
SIO_000300: 2.446e0

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.677739e6

MQ
type: SiteQuality
SIO_000300: 5.747e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

FS
type: SiteQuality
SIO_000300: 1.512e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.477e0

QD
type: SiteQuality
SIO_000300: 1.622e1

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.664e1

MQRankSum
type: SiteQuality
SIO_000300: -1.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.278e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 5.33e-1

FS
type: SiteQuality
SIO_000300: 1.529e0

DP
type: SiteQuality
SIO_000300: 1.677214e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-2

QD
type: SiteQuality
SIO_000300: 2.185e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.677163e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.072e0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.584e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.69e-1

QD
type: SiteQuality
SIO_000300: 1.744e1

FS
type: SiteQuality
SIO_000300: 8.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.09e-2

DP
type: SiteQuality
SIO_000300: 1.677041e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.24e-1

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

DP
type: SiteQuality
SIO_000300: 1.676414e6

FS
type: SiteQuality
SIO_000300: 1.906e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.83e0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.559721802237678e-4
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 49
allele frequency: 4.23435879709644e-3
allele num: 11572
num of homozygotes: 1

Other
type: Population
allele count: 4
allele frequency: 4.405286343612335e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 404
allele frequency: 6.054611395857687e-3
allele num: 66726
num of homozygotes: 2

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

South Asian
type: Population
allele count: 34
allele frequency: 2.059108527131783e-3
allele num: 16512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 1.691641e6

VQSLOD
type: SiteQuality
SIO_000300: 6.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.254e1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e-1

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

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

Latino
type: Population
allele count: 18
allele frequency: 1.555747623163354e-3
allele num: 11570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.99538355466291e-5
allele num: 66718
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e-1

DP
type: SiteQuality
SIO_000300: 1.659873e6

VQSLOD
type: SiteQuality
SIO_000300: 4.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

QD
type: SiteQuality
SIO_000300: 1.312e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.697679995204124e-4
allele num: 66724
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.25e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

DP
type: SiteQuality
SIO_000300: 1.651234e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 5.233e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.818e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.649818e6

QD
type: SiteQuality
SIO_000300: 1.227e1

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 1.64962e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

FS
type: SiteQuality
SIO_000300: 2.397e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 1.196e1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.497211728728189e-5
allele num: 66708
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.169e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 3.645e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

DP
type: SiteQuality
SIO_000300: 1.649106e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.245e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e-1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.648957e6

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.428e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.275e0

QD
type: SiteQuality
SIO_000300: 1.081e1

VQSLOD
type: SiteQuality
SIO_000300: -3.242e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.69e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49842555105713e-5
allele num: 66690
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.302e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.08e-1

DP
type: SiteQuality
SIO_000300: 1.648418e6

MQRankSum
type: SiteQuality
SIO_000300: -4.83e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.426e1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.98e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 1.645476e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.648e0

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

QD
type: SiteQuality
SIO_000300: 1.48e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

FS
type: SiteQuality
SIO_000300: 4.398e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

MQ
type: SiteQuality
SIO_000300: 6.054e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.648e0

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

FS
type: SiteQuality
SIO_000300: 4.398e0

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 6.054e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

DP
type: SiteQuality
SIO_000300: 1.645476e6

QD
type: SiteQuality
SIO_000300: 1.48e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.196e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

QD
type: SiteQuality
SIO_000300: 1.431e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.208e0

DP
type: SiteQuality
SIO_000300: 1.645273e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.326e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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allele num: 16498
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MQRankSum
type: SiteQuality
SIO_000300: -2.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

DP
type: SiteQuality
SIO_000300: 1.644189e6

FS
type: SiteQuality
SIO_000300: 1.029e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

QD
type: SiteQuality
SIO_000300: 1.354e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.267e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 906
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East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.845e1

DP
type: SiteQuality
SIO_000300: 1.643222e6

FS
type: SiteQuality
SIO_000300: 9.265000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -2.028e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502900598154438e-5
allele num: 66538
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: -5.399e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.642821e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.092e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 7.554e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.04e-1

QD
type: SiteQuality
SIO_000300: 1.41e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66484
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South Asian
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Other
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
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African
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allele count: 1
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.569e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 1.640462e6

QD
type: SiteQuality
SIO_000300: 1.252e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

MQ
type: SiteQuality
SIO_000300: 5.804e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

African
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allele count: 2
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South Asian
type: Population
allele count: 0
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num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.515080368430558e-5
allele num: 66444
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DP
type: SiteQuality
SIO_000300: 1.63898e6

FS
type: SiteQuality
SIO_000300: 1.362e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

QD
type: SiteQuality
SIO_000300: 1.092e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.96e-1

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

Latino
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allele count: 0
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allele num: 11510
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
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African
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

FS
type: SiteQuality
SIO_000300: 4.562e0

QD
type: SiteQuality
SIO_000300: 1.595e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

VQSLOD
type: SiteQuality
SIO_000300: 4.22e-1

DP
type: SiteQuality
SIO_000300: 1.634621e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

Latino
type: Population
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66326
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.688044952528579e-5
allele num: 10322
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Other
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
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allele num: 8620
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MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

FS
type: SiteQuality
SIO_000300: 9.661e0

QD
type: SiteQuality
SIO_000300: 1.158e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.633322e6

VQSLOD
type: SiteQuality
SIO_000300: -6.575e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514187941007238e-5
allele num: 66042
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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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
allele num: 10282
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.238e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

QD
type: SiteQuality
SIO_000300: 1.296e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

MQRankSum
type: SiteQuality
SIO_000300: -7.43e-1

FS
type: SiteQuality
SIO_000300: 1.608e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.622311e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534966537729477e-5
allele num: 65148
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.83e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.194e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.667e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.71e1

DP
type: SiteQuality
SIO_000300: 1.584869e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.666555562962469e-5
allele num: 60004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7622
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.278e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.06e-1

DP
type: SiteQuality
SIO_000300: 1.394557e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

FS
type: SiteQuality
SIO_000300: 2.597e0

QD
type: SiteQuality
SIO_000300: 9.75e0

VQSLOD
type: SiteQuality
SIO_000300: 8.62e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.333111125924938e-5
allele num: 60004
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15276
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.278e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

DP
type: SiteQuality
SIO_000300: 1.394557e6

VQSLOD
type: SiteQuality
SIO_000300: 8.62e-1

FS
type: SiteQuality
SIO_000300: 2.597e0

QD
type: SiteQuality
SIO_000300: 9.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6100
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.424188467333242e-5
allele num: 58408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9122
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.368738023542294e-4
allele num: 7306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14984
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.566e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.244e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3