14-65253231-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253231
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253231
    reference: chr 14
allele count: 3
allele frequency: 2.497377753358973e-5
allele num: 120126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3452A>G
  hgvsp: ENSP00000374370.3:p.Asn1151Ser
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3452A>G
  hgvsp: ENSP00000374371.5:p.Asn1151Ser
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3452A>G
  hgvsp: ENSP00000374372.3:p.Asn1151Ser
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3452A>G
  hgvsp: ENSP00000451752.1:p.Asn1151Ser
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3452A>G
  hgvsp: ENSP00000443882.1:p.Asn1151Ser
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 8864
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11823
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5520
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn1151Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

14-65253232-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253232
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253232
    reference: chr 14
allele count: 40449
allele frequency: 3.381118764210245e-1
allele num: 119632
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3451A>G
  hgvsp: ENSP00000374372.3:p.Asn1151Asp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3451A>G
  hgvsp: ENSP00000374371.5:p.Asn1151Asp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3451A>G
  hgvsp: ENSP00000451752.1:p.Asn1151Asp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3451A>G
  hgvsp: ENSP00000374370.3:p.Asn1151Asp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3451A>G
  hgvsp: ENSP00000443882.1:p.Asn1151Asp
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 7.25e1
  variant carriers: 2271
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 8.25e1
  variant carriers: 1461
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 4.75e1
  variant carriers: 2926
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 5.25e1
  variant carriers: 3272
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 4.25e1
  variant carriers: 2392
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.75e1
  variant carriers: 2710
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 2.25e1
  variant carriers: 604
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.25e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.75e1
  variant carriers: 397
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 8.75e1
  variant carriers: 1143
genotype depth: GenotypeDepth
  all individuals: 8057
  bin: 3.25e1
  variant carriers: 1151
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 3.75e1
  variant carriers: 1735
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 7.75e1
  variant carriers: 1891
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 6.25e1
  variant carriers: 3044
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 5.75e1
  variant carriers: 3326
genotype depth: GenotypeDepth
  all individuals: 10960
  bin: 2.75e1
  variant carriers: 798
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 9.25e1
  variant carriers: 946
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 9.75e1
  variant carriers: 2704
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 4410
  bin: 6.75e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 34994
  bin: 9.75e1
  variant carriers: 32196
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 8.75e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 9.25e1
  variant carriers: 119
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 8.25e1
  variant carriers: 83
hgvs: p.Asn1151Asp
num of homozygotes: 7536
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/14-65253239-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253239
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253239
    reference: chr 14
allele count: 2
allele frequency: 1.65000165000165e-5
allele num: 121212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3444T>G
  hgvsp: ENST00000389721.5:c.3444T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3444T>G
  hgvsp: ENST00000389722.3:c.3444T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3444T>G
  hgvsp: ENST00000556626.1:c.3444T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3444T>G
  hgvsp: ENST00000389720.3:c.3444T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3444T>G
  hgvsp: ENST00000542895.1:c.3444T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7105
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Thr1148Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

14-65253248-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253248
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253248
    reference: chr 14
allele count: 7
allele frequency: 5.787037037037037e-5
allele num: 120960
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3435C>G
  hgvsp: ENST00000556626.1:c.3435C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3435C>G
  hgvsp: ENST00000542895.1:c.3435C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3435C>G
  hgvsp: ENST00000389720.3:c.3435C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3435C>G
  hgvsp: ENST00000389721.5:c.3435C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3435C>G
  hgvsp: ENST00000389722.3:c.3435C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23667
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15277
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7023
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29012
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly1145Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

14-65253250-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253250
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253250
    reference: chr 14
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3433G>A
  hgvsp: ENSP00000451752.1:p.Gly1145Ser
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3433G>A
  hgvsp: ENSP00000374371.5:p.Gly1145Ser
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3433G>A
  hgvsp: ENSP00000374372.3:p.Gly1145Ser
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3433G>A
  hgvsp: ENSP00000374370.3:p.Gly1145Ser
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3433G>A
  hgvsp: ENSP00000443882.1:p.Gly1145Ser
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29529
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3619
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7134
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly1145Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-65253252-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253252
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253252
    reference: chr 14
allele count: 132
allele frequency: 1.151892769254935e-3
allele num: 114594
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3431A>G
  hgvsp: ENSP00000374371.5:p.Glu1144Gly
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3431A>G
  hgvsp: ENSP00000374372.3:p.Glu1144Gly
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3431A>G
  hgvsp: ENSP00000443882.1:p.Glu1144Gly
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3431A>G
  hgvsp: ENSP00000374370.3:p.Glu1144Gly
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3431A>G
  hgvsp: ENSP00000451752.1:p.Glu1144Gly
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 23422
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15174
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6601
  bin: 9.75e1
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28531
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9806
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Glu1144Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-65253253-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253253
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253253
    reference: chr 14
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3430G>C
  hgvsp: ENSP00000374370.3:p.Glu1144Gln
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3430G>C
  hgvsp: ENSP00000374372.3:p.Glu1144Gln
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3430G>C
  hgvsp: ENSP00000374371.5:p.Glu1144Gln
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3430G>C
  hgvsp: ENSP00000451752.1:p.Glu1144Gln
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3430G>C
  hgvsp: ENSP00000443882.1:p.Glu1144Gln
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 9.25e1
  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: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu1144Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

14-65253258-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253258
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253258
    reference: chr 14
allele count: 26
allele frequency: 2.142492212864842e-4
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3425G>A
  hgvsp: ENSP00000443882.1:p.Arg1142Gln
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3425G>A
  hgvsp: ENSP00000451752.1:p.Arg1142Gln
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3425G>A
  hgvsp: ENSP00000374371.5:p.Arg1142Gln
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3425G>A
  hgvsp: ENSP00000374372.3:p.Arg1142Gln
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3425G>A
  hgvsp: ENSP00000374370.3:p.Arg1142Gln
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7029
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3814
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3628
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10496
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg1142Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

14-65253274-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253274
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253274
    reference: chr 14
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3409C>A
  hgvsp: ENSP00000374370.3:p.Leu1137Met
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3409C>A
  hgvsp: ENSP00000374371.5:p.Leu1137Met
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3409C>A
  hgvsp: ENSP00000443882.1:p.Leu1137Met
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3409C>A
  hgvsp: ENSP00000451752.1:p.Leu1137Met
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3409C>A
  hgvsp: ENSP00000374372.3:p.Leu1137Met
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6984
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu1137Met
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

14-65253278-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253278
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253278
    reference: chr 14
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3405G>C
  hgvsp: ENSP00000374371.5:p.Glu1135Asp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3405G>C
  hgvsp: ENSP00000443882.1:p.Glu1135Asp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3405G>C
  hgvsp: ENSP00000451752.1:p.Glu1135Asp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3405G>C
  hgvsp: ENSP00000374372.3:p.Glu1135Asp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3405G>C
  hgvsp: ENSP00000374370.3:p.Glu1135Asp
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5292
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6984
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3773
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu1135Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

14-65253279-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253279
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253279
    reference: chr 14
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3404A>T
  hgvsp: ENSP00000374371.5:p.Glu1135Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3404A>T
  hgvsp: ENSP00000443882.1:p.Glu1135Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3404A>T
  hgvsp: ENSP00000451752.1:p.Glu1135Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3404A>T
  hgvsp: ENSP00000374372.3:p.Glu1135Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3404A>T
  hgvsp: ENSP00000374370.3:p.Glu1135Val
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10368
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu1135Val
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

14-65253285-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253285
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253285
    reference: chr 14
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3398A>G
  hgvsp: ENSP00000443882.1:p.Asp1133Gly
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3398A>G
  hgvsp: ENSP00000451752.1:p.Asp1133Gly
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3398A>G
  hgvsp: ENSP00000374370.3:p.Asp1133Gly
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3398A>G
  hgvsp: ENSP00000374372.3:p.Asp1133Gly
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3398A>G
  hgvsp: ENSP00000374371.5:p.Asp1133Gly
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10350
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6976
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp1133Gly
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

14-65253287-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253287
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253287
    reference: chr 14
allele count: 7
allele frequency: 5.769769703763538e-5
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3396G>A
  hgvsp: ENST00000389722.3:c.3396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3396G>A
  hgvsp: ENST00000389720.3:c.3396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3396G>A
  hgvsp: ENST00000542895.1:c.3396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3396G>A
  hgvsp: ENST00000556626.1:c.3396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3396G>A
  hgvsp: ENST00000389721.5:c.3396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24165
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6971
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30557
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr1132Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

14-65253288-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253288
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253288
    reference: chr 14
allele count: 5
allele frequency: 4.121128200056047e-5
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3395C>T
  hgvsp: ENSP00000374372.3:p.Thr1132Met
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3395C>T
  hgvsp: ENSP00000451752.1:p.Thr1132Met
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3395C>T
  hgvsp: ENSP00000443882.1:p.Thr1132Met
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3395C>T
  hgvsp: ENSP00000374371.5:p.Thr1132Met
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3395C>T
  hgvsp: ENSP00000374370.3:p.Thr1132Met
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3719
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr1132Met
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

14-65253290-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253290
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253290
    reference: chr 14
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3393G>A
  hgvsp: ENST00000389722.3:c.3393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3393G>A
  hgvsp: ENST00000556626.1:c.3393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3393G>A
  hgvsp: ENST00000542895.1:c.3393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3393G>A
  hgvsp: ENST00000389721.5:c.3393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3393G>A
  hgvsp: ENST00000389720.3:c.3393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3715
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3525
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln1131Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

14-65253297-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253297
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253297
    reference: chr 14
allele count: 5
allele frequency: 4.120584793393878e-5
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3386A>G
  hgvsp: ENSP00000451752.1:p.Gln1129Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3386A>G
  hgvsp: ENSP00000443882.1:p.Gln1129Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3386A>G
  hgvsp: ENSP00000374371.5:p.Gln1129Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3386A>G
  hgvsp: ENSP00000374370.3:p.Gln1129Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3386A>G
  hgvsp: ENSP00000374372.3:p.Gln1129Arg
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15120
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6947
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30804
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln1129Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum

14-65253299-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253299
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253299
    reference: chr 14
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3384C>G
  hgvsp: ENSP00000374372.3:p.Ile1128Met
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3384C>G
  hgvsp: ENSP00000374371.5:p.Ile1128Met
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3384C>G
  hgvsp: ENSP00000443882.1:p.Ile1128Met
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3384C>G
  hgvsp: ENSP00000451752.1:p.Ile1128Met
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3384C>G
  hgvsp: ENSP00000374370.3:p.Ile1128Met
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10332
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3685
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3499
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile1128Met
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

14-65253300-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253300
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253300
    reference: chr 14
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3383T>C
  hgvsp: ENSP00000374372.3:p.Ile1128Thr
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3383T>C
  hgvsp: ENSP00000374371.5:p.Ile1128Thr
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3383T>C
  hgvsp: ENSP00000443882.1:p.Ile1128Thr
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3383T>C
  hgvsp: ENSP00000374370.3:p.Ile1128Thr
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3383T>C
  hgvsp: ENSP00000451752.1:p.Ile1128Thr
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6940
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile1128Thr
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

14-65253301-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253301
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253301
    reference: chr 14
allele count: 14
allele frequency: 1.153763742150286e-4
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3382A>G
  hgvsp: ENSP00000374372.3:p.Ile1128Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3382A>G
  hgvsp: ENSP00000451752.1:p.Ile1128Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3382A>G
  hgvsp: ENSP00000374370.3:p.Ile1128Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3382A>G
  hgvsp: ENSP00000374371.5:p.Ile1128Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3382A>G
  hgvsp: ENSP00000443882.1:p.Ile1128Val
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15084
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30925
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile1128Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

14-65253302-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253302
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253302
    reference: chr 14
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3381G>C
  hgvsp: ENST00000389720.3:c.3381G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3381G>C
  hgvsp: ENST00000556626.1:c.3381G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3381G>C
  hgvsp: ENST00000389721.5:c.3381G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3381G>C
  hgvsp: ENST00000542895.1:c.3381G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3381G>C
  hgvsp: ENST00000389722.3:c.3381G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6933
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val1127Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

14-65253311-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253311
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253311
    reference: chr 14
allele count: 9
allele frequency: 7.416808135414435e-5
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3372G>A
  hgvsp: ENST00000389720.3:c.3372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3372G>A
  hgvsp: ENST00000389722.3:c.3372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3372G>A
  hgvsp: ENST00000389721.5:c.3372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3372G>A
  hgvsp: ENST00000556626.1:c.3372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3372G>A
  hgvsp: ENST00000542895.1:c.3372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6498
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3479
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31074
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly1124Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-65253316-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253316
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253316
    reference: chr 14
allele count: 2
allele frequency: 1.648098094798602e-5
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3367T>C
  hgvsp: ENSP00000374370.3:p.Ser1123Pro
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3367T>C
  hgvsp: ENSP00000451752.1:p.Ser1123Pro
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3367T>C
  hgvsp: ENSP00000443882.1:p.Ser1123Pro
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3367T>C
  hgvsp: ENSP00000374372.3:p.Ser1123Pro
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3367T>C
  hgvsp: ENSP00000374371.5:p.Ser1123Pro
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31048
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser1123Pro
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-65253327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253327
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253327
    reference: chr 14
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3356G>A
  hgvsp: ENSP00000443882.1:p.Arg1119His
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3356G>A
  hgvsp: ENSP00000374372.3:p.Arg1119His
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3356G>A
  hgvsp: ENSP00000374370.3:p.Arg1119His
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3356G>A
  hgvsp: ENSP00000374371.5:p.Arg1119His
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3356G>A
  hgvsp: ENSP00000451752.1:p.Arg1119His
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10281
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3628
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg1119His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

14-65253328-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253328
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253328
    reference: chr 14
allele count: 2
allele frequency: 1.648152421135907e-5
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3355C>T
  hgvsp: ENSP00000374370.3:p.Arg1119Cys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3355C>T
  hgvsp: ENSP00000374372.3:p.Arg1119Cys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3355C>T
  hgvsp: ENSP00000374371.5:p.Arg1119Cys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3355C>T
  hgvsp: ENSP00000443882.1:p.Arg1119Cys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3355C>T
  hgvsp: ENSP00000451752.1:p.Arg1119Cys
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31261
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg1119Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

14-65253341-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253341
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253341
    reference: chr 14
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3342A>G
  hgvsp: ENST00000389721.5:c.3342A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3342A>G
  hgvsp: ENST00000389722.3:c.3342A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3342A>G
  hgvsp: ENST00000556626.1:c.3342A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3342A>G
  hgvsp: ENST00000542895.1:c.3342A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3342A>G
  hgvsp: ENST00000389720.3:c.3342A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31489
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6909
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln1114Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

14-65253345-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253345
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253345
    reference: chr 14
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3338A>G
  hgvsp: ENSP00000374371.5:p.His1113Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3338A>G
  hgvsp: ENSP00000374372.3:p.His1113Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3338A>G
  hgvsp: ENSP00000374370.3:p.His1113Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3338A>G
  hgvsp: ENSP00000443882.1:p.His1113Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3338A>G
  hgvsp: ENSP00000451752.1:p.His1113Arg
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6909
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His1113Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

14-65253348-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253348
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253348
    reference: chr 14
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3335G>A
  hgvsp: ENSP00000374370.3:p.Gly1112Glu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3335G>A
  hgvsp: ENSP00000374371.5:p.Gly1112Glu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3335G>A
  hgvsp: ENSP00000374372.3:p.Gly1112Glu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3335G>A
  hgvsp: ENSP00000451752.1:p.Gly1112Glu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3335G>A
  hgvsp: ENSP00000443882.1:p.Gly1112Glu
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly1112Glu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

14-65253349-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253349
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253349
    reference: chr 14
allele count: 48
allele frequency: 3.955565810726176e-4
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3334G>A
  hgvsp: ENSP00000374372.3:p.Gly1112Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3334G>A
  hgvsp: ENSP00000374370.3:p.Gly1112Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3334G>A
  hgvsp: ENSP00000374371.5:p.Gly1112Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3334G>A
  hgvsp: ENSP00000443882.1:p.Gly1112Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3334G>A
  hgvsp: ENSP00000451752.1:p.Gly1112Arg
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14954
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24342
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly1112Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-65253350-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253350
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253350
    reference: chr 14
allele count: 3
allele frequency: 2.47239162683369e-5
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3333C>T
  hgvsp: ENST00000389720.3:c.3333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3333C>T
  hgvsp: ENST00000556626.1:c.3333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3333C>T
  hgvsp: ENST00000389722.3:c.3333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3333C>T
  hgvsp: ENST00000389721.5:c.3333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3333C>T
  hgvsp: ENST00000542895.1:c.3333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp1111Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD

14-65253350-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253350
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253350
    reference: chr 14
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3333C>G
  hgvsp: ENSP00000374370.3:p.Asp1111Glu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3333C>G
  hgvsp: ENSP00000374371.5:p.Asp1111Glu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3333C>G
  hgvsp: ENSP00000451752.1:p.Asp1111Glu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3333C>G
  hgvsp: ENSP00000374372.3:p.Asp1111Glu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3333C>G
  hgvsp: ENSP00000443882.1:p.Asp1111Glu
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp1111Glu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS

14-65253367-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253367
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253367
    reference: chr 14
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3316A>G
  hgvsp: ENSP00000374372.3:p.Ile1106Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3316A>G
  hgvsp: ENSP00000374371.5:p.Ile1106Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3316A>G
  hgvsp: ENSP00000374370.3:p.Ile1106Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3316A>G
  hgvsp: ENSP00000443882.1:p.Ile1106Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3316A>G
  hgvsp: ENSP00000451752.1:p.Ile1106Val
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6877
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10280
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3595
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile1106Val
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-65253372-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253372
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253372
    reference: chr 14
allele count: 8
allele frequency: 6.593587735926811e-5
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3311C>G
  hgvsp: ENSP00000443882.1:p.Ala1104Gly
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3311C>G
  hgvsp: ENSP00000374371.5:p.Ala1104Gly
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3311C>G
  hgvsp: ENSP00000374370.3:p.Ala1104Gly
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3311C>G
  hgvsp: ENSP00000451752.1:p.Ala1104Gly
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3311C>G
  hgvsp: ENSP00000374372.3:p.Ala1104Gly
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  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: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala1104Gly
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

14-65253375-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253375
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253375
    reference: chr 14
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3308A>G
  hgvsp: ENSP00000374371.5:p.His1103Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3308A>G
  hgvsp: ENSP00000374372.3:p.His1103Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3308A>G
  hgvsp: ENSP00000374370.3:p.His1103Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3308A>G
  hgvsp: ENSP00000451752.1:p.His1103Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3308A>G
  hgvsp: ENSP00000443882.1:p.His1103Arg
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6869
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His1103Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

14-65253383-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253383
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253383
    reference: chr 14
allele count: 9
allele frequency: 7.417297136923305e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3300G>A
  hgvsp: ENST00000542895.1:c.3300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3300G>A
  hgvsp: ENST00000389722.3:c.3300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3300G>A
  hgvsp: ENST00000389721.5:c.3300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3300G>A
  hgvsp: ENST00000389720.3:c.3300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3300G>A
  hgvsp: ENST00000556626.1:c.3300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10239
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu1100Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ

14-65253391-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253391
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253391
    reference: chr 14
allele count: 2
allele frequency: 1.648451280022419e-5
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3292C>A
  hgvsp: ENSP00000374370.3:p.Gln1098Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3292C>A
  hgvsp: ENSP00000451752.1:p.Gln1098Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3292C>A
  hgvsp: ENSP00000374372.3:p.Gln1098Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3292C>A
  hgvsp: ENSP00000374371.5:p.Gln1098Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3292C>A
  hgvsp: ENSP00000443882.1:p.Gln1098Lys
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6863
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln1098Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-65253412-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253412
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253412
    reference: chr 14
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3271G>A
  hgvsp: ENSP00000451752.1:p.Glu1091Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3271G>A
  hgvsp: ENSP00000374370.3:p.Glu1091Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3271G>A
  hgvsp: ENSP00000374372.3:p.Glu1091Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3271G>A
  hgvsp: ENSP00000374371.5:p.Glu1091Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3271G>A
  hgvsp: ENSP00000443882.1:p.Glu1091Lys
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10206
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu1091Lys
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

14-65253413-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253413
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253413
    reference: chr 14
allele count: 6
allele frequency: 4.94641384995878e-5
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3270C>T
  hgvsp: ENST00000542895.1:c.3270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3270C>T
  hgvsp: ENST00000389721.5:c.3270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3270C>T
  hgvsp: ENST00000556626.1:c.3270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3270C>T
  hgvsp: ENST00000389722.3:c.3270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3270C>T
  hgvsp: ENST00000389720.3:c.3270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3596
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6866
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Pro1090Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

14-65253418-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253418
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253418
    reference: chr 14
allele count: 2
allele frequency: 1.648723063986942e-5
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3265A>G
  hgvsp: ENSP00000374372.3:p.Met1089Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3265A>G
  hgvsp: ENSP00000374371.5:p.Met1089Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3265A>G
  hgvsp: ENSP00000443882.1:p.Met1089Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3265A>G
  hgvsp: ENSP00000451752.1:p.Met1089Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3265A>G
  hgvsp: ENSP00000374370.3:p.Met1089Val
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31932
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6863
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met1089Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

14-65253422-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253422
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253422
    reference: chr 14
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3261G>A
  hgvsp: ENST00000389722.3:c.3261G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3261G>A
  hgvsp: ENST00000389721.5:c.3261G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3261G>A
  hgvsp: ENST00000389720.3:c.3261G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3261G>A
  hgvsp: ENST00000556626.1:c.3261G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3261G>A
  hgvsp: ENST00000542895.1:c.3261G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31922
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3593
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu1087Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

14-65253429-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253429
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253429
    reference: chr 14
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3254C>T
  hgvsp: ENSP00000374371.5:p.Ala1085Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3254C>T
  hgvsp: ENSP00000374372.3:p.Ala1085Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3254C>T
  hgvsp: ENSP00000443882.1:p.Ala1085Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3254C>T
  hgvsp: ENSP00000451752.1:p.Ala1085Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3254C>T
  hgvsp: ENSP00000374370.3:p.Ala1085Val
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3585
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6859
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala1085Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

14-65253436-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253436
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253436
    reference: chr 14
allele count: 3
allele frequency: 2.475165836111019e-5
allele num: 121204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3247G>A
  hgvsp: ENSP00000451752.1:p.Ala1083Thr
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3247G>A
  hgvsp: ENSP00000443882.1:p.Ala1083Thr
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3247G>A
  hgvsp: ENSP00000374371.5:p.Ala1083Thr
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3247G>A
  hgvsp: ENSP00000374372.3:p.Ala1083Thr
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3247G>A
  hgvsp: ENSP00000374370.3:p.Ala1083Thr
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3589
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1083Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

14-65253445-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253445
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253445
    reference: chr 14
allele count: 7
allele frequency: 5.77748431825685e-5
allele num: 121160
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3238A>G
  hgvsp: ENSP00000451752.1:p.Thr1080Ala
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3238A>G
  hgvsp: ENSP00000443882.1:p.Thr1080Ala
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3238A>G
  hgvsp: ENSP00000374370.3:p.Thr1080Ala
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3238A>G
  hgvsp: ENSP00000374371.5:p.Thr1080Ala
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3238A>G
  hgvsp: ENSP00000374372.3:p.Thr1080Ala
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6857
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr1080Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

14-65253450-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253450
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253450
    reference: chr 14
allele count: 62
allele frequency: 5.119735755573906e-4
allele num: 121100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3233C>T
  hgvsp: ENSP00000374370.3:p.Ser1078Phe
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3233C>T
  hgvsp: ENSP00000451752.1:p.Ser1078Phe
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3233C>T
  hgvsp: ENSP00000374372.3:p.Ser1078Phe
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3233C>T
  hgvsp: ENSP00000374371.5:p.Ser1078Phe
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3233C>T
  hgvsp: ENSP00000443882.1:p.Ser1078Phe
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14840
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 6869
  bin: 9.75e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31564
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3578
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10122
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser1078Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/14-65253455-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253455
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253455
    reference: chr 14
allele count: 8
allele frequency: 6.610586854848039e-5
allele num: 121018
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3228G>T
  hgvsp: ENSP00000374372.3:p.Trp1076Cys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3228G>T
  hgvsp: ENSP00000443882.1:p.Trp1076Cys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3228G>T
  hgvsp: ENSP00000374371.5:p.Trp1076Cys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3228G>T
  hgvsp: ENSP00000451752.1:p.Trp1076Cys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3228G>T
  hgvsp: ENSP00000374370.3:p.Trp1076Cys
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6831
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3573
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Trp1076Cys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-65253457-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253457
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253457
    reference: chr 14
allele count: 2
allele frequency: 1.652892561983471e-5
allele num: 121000
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3226T>G
  hgvsp: ENSP00000374370.3:p.Trp1076Gly
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3226T>G
  hgvsp: ENSP00000374372.3:p.Trp1076Gly
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3226T>G
  hgvsp: ENSP00000374371.5:p.Trp1076Gly
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3226T>G
  hgvsp: ENSP00000451752.1:p.Trp1076Gly
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3226T>G
  hgvsp: ENSP00000443882.1:p.Trp1076Gly
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Trp1076Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

14-65253468-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253468
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253468
    reference: chr 14
allele count: 1
allele frequency: 8.27348843366317e-6
allele num: 120868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3215A>T
  hgvsp: ENSP00000374370.3:p.Asp1072Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3215A>T
  hgvsp: ENSP00000374371.5:p.Asp1072Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3215A>T
  hgvsp: ENSP00000374372.3:p.Asp1072Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3215A>T
  hgvsp: ENSP00000443882.1:p.Asp1072Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3215A>T
  hgvsp: ENSP00000451752.1:p.Asp1072Val
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6819
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10043
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp1072Val
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

14-65253480-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253480
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253480
    reference: chr 14
allele count: 10
allele frequency: 8.279516476237788e-5
allele num: 120780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3203A>G
  hgvsp: ENSP00000443882.1:p.Gln1068Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3203A>G
  hgvsp: ENSP00000374372.3:p.Gln1068Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3203A>G
  hgvsp: ENSP00000374371.5:p.Gln1068Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3203A>G
  hgvsp: ENSP00000374370.3:p.Gln1068Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3203A>G
  hgvsp: ENSP00000451752.1:p.Gln1068Arg
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3354
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10027
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln1068Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

14-65253481-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253481
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253481
    reference: chr 14
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3202C>A
  hgvsp: ENSP00000374372.3:p.Gln1068Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3202C>A
  hgvsp: ENSP00000374370.3:p.Gln1068Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3202C>A
  hgvsp: ENSP00000374371.5:p.Gln1068Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3202C>A
  hgvsp: ENSP00000443882.1:p.Gln1068Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3202C>A
  hgvsp: ENSP00000451752.1:p.Gln1068Lys
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6815
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10023
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln1068Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum

14-65253488-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253488
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253488
    reference: chr 14
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3195C>T
  hgvsp: ENST00000542895.1:c.3195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3195C>T
  hgvsp: ENST00000389720.3:c.3195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3195C>T
  hgvsp: ENST00000389721.5:c.3195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3195C>T
  hgvsp: ENST00000556626.1:c.3195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3195C>T
  hgvsp: ENST00000389722.3:c.3195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6814
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 24
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genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala1065Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

14-65253491-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253491
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253491
    reference: chr 14
allele count: 3
allele frequency: 2.485254158658626e-5
allele num: 120712
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3192G>A
  hgvsp: ENST00000389722.3:c.3192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3192G>A
  hgvsp: ENST00000389720.3:c.3192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3192G>A
  hgvsp: ENST00000556626.1:c.3192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3192G>A
  hgvsp: ENST00000542895.1:c.3192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3192G>A
  hgvsp: ENST00000389721.5:c.3192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30980
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3340
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6814
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln1064Gln
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-65253505-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253505
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253505
    reference: chr 14
allele count: 1
allele frequency: 8.286651861182008e-6
allele num: 120676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3178G>A
  hgvsp: ENSP00000451752.1:p.Val1060Ile
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3178G>A
  hgvsp: ENSP00000374371.5:p.Val1060Ile
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3178G>A
  hgvsp: ENSP00000374370.3:p.Val1060Ile
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3178G>A
  hgvsp: ENSP00000443882.1:p.Val1060Ile
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3178G>A
  hgvsp: ENSP00000374372.3:p.Val1060Ile
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9996
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val1060Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

14-65253506-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253506
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253506
    reference: chr 14
allele count: 2
allele frequency: 1.657440249279014e-5
allele num: 120668
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3177A>C
  hgvsp: ENSP00000451752.1:p.Glu1059Asp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3177A>C
  hgvsp: ENSP00000374371.5:p.Glu1059Asp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3177A>C
  hgvsp: ENSP00000443882.1:p.Glu1059Asp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3177A>C
  hgvsp: ENSP00000374372.3:p.Glu1059Asp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3177A>C
  hgvsp: ENSP00000374370.3:p.Glu1059Asp
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6811
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu1059Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

14-65253528-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253528
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253528
    reference: chr 14
allele count: 1
allele frequency: 8.288987251537607e-6
allele num: 120642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3155G>A
  hgvsp: ENSP00000374370.3:p.Gly1052Asp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3155G>A
  hgvsp: ENSP00000451752.1:p.Gly1052Asp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3155G>A
  hgvsp: ENSP00000374372.3:p.Gly1052Asp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3155G>A
  hgvsp: ENSP00000374371.5:p.Gly1052Asp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3155G>A
  hgvsp: ENSP00000443882.1:p.Gly1052Asp
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9978
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6808
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly1052Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

14-65253529-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253529
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253529
    reference: chr 14
allele count: 8
allele frequency: 6.630420368651372e-5
allele num: 120656
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3154G>A
  hgvsp: ENSP00000443882.1:p.Gly1052Ser
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3154G>A
  hgvsp: ENSP00000374372.3:p.Gly1052Ser
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3154G>A
  hgvsp: ENSP00000374371.5:p.Gly1052Ser
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3154G>A
  hgvsp: ENSP00000451752.1:p.Gly1052Ser
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3154G>A
  hgvsp: ENSP00000374370.3:p.Gly1052Ser
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9990
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6810
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly1052Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

14-65253536-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253536
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253536
    reference: chr 14
allele count: 1
allele frequency: 8.28953694646617e-6
allele num: 120634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3147C>T
  hgvsp: ENST00000556626.1:c.3147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3147C>T
  hgvsp: ENST00000389722.3:c.3147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3147C>T
  hgvsp: ENST00000389721.5:c.3147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3147C>T
  hgvsp: ENST00000389720.3:c.3147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3147C>T
  hgvsp: ENST00000542895.1:c.3147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6803
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31416
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser1049Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-65253556-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253556
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253556
    reference: chr 14
allele count: 6
allele frequency: 4.97124960644274e-5
allele num: 120694
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3127T>C
  hgvsp: ENSP00000374372.3:p.Trp1043Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3127T>C
  hgvsp: ENSP00000374370.3:p.Trp1043Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3127T>C
  hgvsp: ENSP00000374371.5:p.Trp1043Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3127T>C
  hgvsp: ENSP00000443882.1:p.Trp1043Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3127T>C
  hgvsp: ENSP00000451752.1:p.Trp1043Arg
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14715
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6807
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31520
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Trp1043Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

14-65253558-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253558
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253558
    reference: chr 14
allele count: 1
allele frequency: 8.2847295864263e-6
allele num: 120704
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3125T>C
  hgvsp: ENSP00000374371.5:p.Leu1042Pro
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3125T>C
  hgvsp: ENSP00000451752.1:p.Leu1042Pro
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3125T>C
  hgvsp: ENSP00000443882.1:p.Leu1042Pro
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3125T>C
  hgvsp: ENSP00000374370.3:p.Leu1042Pro
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3125T>C
  hgvsp: ENSP00000374372.3:p.Leu1042Pro
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3314
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6802
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu1042Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

14-65253569-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253569
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253569
    reference: chr 14
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3114C>T
  hgvsp: ENST00000389721.5:c.3114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3114C>T
  hgvsp: ENST00000389720.3:c.3114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3114C>T
  hgvsp: ENST00000556626.1:c.3114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3114C>T
  hgvsp: ENST00000542895.1:c.3114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3114C>T
  hgvsp: ENST00000389722.3:c.3114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31657
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6800
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9982
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His1038His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

14-65253571-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253571
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253571
    reference: chr 14
allele count: 5
allele frequency: 4.141335497871354e-5
allele num: 120734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3112C>T
  hgvsp: ENSP00000374370.3:p.His1038Tyr
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3112C>T
  hgvsp: ENSP00000451752.1:p.His1038Tyr
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3112C>T
  hgvsp: ENSP00000374372.3:p.His1038Tyr
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3112C>T
  hgvsp: ENSP00000374371.5:p.His1038Tyr
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3112C>T
  hgvsp: ENSP00000443882.1:p.His1038Tyr
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14725
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9976
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31650
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His1038Tyr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-65253575-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253575
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253575
    reference: chr 14
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3108A>G
  hgvsp: ENST00000389721.5:c.3108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3108A>G
  hgvsp: ENST00000542895.1:c.3108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3108A>G
  hgvsp: ENST00000556626.1:c.3108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3108A>G
  hgvsp: ENST00000389722.3:c.3108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3108A>G
  hgvsp: ENST00000389720.3:c.3108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln1036Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

14-65253579-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253579
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253579
    reference: chr 14
allele count: 2
allele frequency: 1.656177542232527e-5
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3104G>A
  hgvsp: ENSP00000443882.1:p.Arg1035Gln
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3104G>A
  hgvsp: ENSP00000374372.3:p.Arg1035Gln
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3104G>A
  hgvsp: ENSP00000374371.5:p.Arg1035Gln
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3104G>A
  hgvsp: ENSP00000451752.1:p.Arg1035Gln
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3104G>A
  hgvsp: ENSP00000374370.3:p.Arg1035Gln
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6801
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg1035Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

14-65253580-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253580
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253580
    reference: chr 14
allele count: 54
allele frequency: 4.471605306304964e-4
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3103C>T
  hgvsp: ENSP00000374370.3:p.Arg1035Trp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3103C>T
  hgvsp: ENSP00000443882.1:p.Arg1035Trp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3103C>T
  hgvsp: ENSP00000451752.1:p.Arg1035Trp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3103C>T
  hgvsp: ENSP00000374372.3:p.Arg1035Trp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3103C>T
  hgvsp: ENSP00000374371.5:p.Arg1035Trp
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23939
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14731
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31716
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3314
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg1035Trp
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

http://identifiers.org/exac.variant/14-65253592-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253592
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253592
    reference: chr 14
allele count: 10
allele frequency: 8.275816409288777e-5
allele num: 120834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3091G>T
  hgvsp: ENSP00000374370.3:p.Asp1031Tyr
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3091G>T
  hgvsp: ENSP00000451752.1:p.Asp1031Tyr
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3091G>T
  hgvsp: ENSP00000443882.1:p.Asp1031Tyr
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3091G>T
  hgvsp: ENSP00000374371.5:p.Asp1031Tyr
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3091G>T
  hgvsp: ENSP00000374372.3:p.Asp1031Tyr
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3544
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp1031Tyr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

14-65253593-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253593
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253593
    reference: chr 14
allele count: 1
allele frequency: 8.275816409288777e-6
allele num: 120834
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3090G>A
  hgvsp: ENST00000389720.3:c.3090G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3090G>A
  hgvsp: ENST00000389721.5:c.3090G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3090G>A
  hgvsp: ENST00000542895.1:c.3090G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3090G>A
  hgvsp: ENST00000389722.3:c.3090G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3090G>A
  hgvsp: ENST00000556626.1:c.3090G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9992
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3544
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6770
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu1030Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum

14-65253595-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253595
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253595
    reference: chr 14
allele count: 1
allele frequency: 8.275953389830508e-6
allele num: 120832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3088G>A
  hgvsp: ENSP00000451752.1:p.Glu1030Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3088G>A
  hgvsp: ENSP00000374371.5:p.Glu1030Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3088G>A
  hgvsp: ENSP00000374370.3:p.Glu1030Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3088G>A
  hgvsp: ENSP00000443882.1:p.Glu1030Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3088G>A
  hgvsp: ENSP00000374372.3:p.Glu1030Lys
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14746
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6769
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu1030Lys
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

14-65253607-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253607
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253607
    reference: chr 14
allele count: 1
allele frequency: 8.269793751343841e-6
allele num: 120922
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3076C>G
  hgvsp: ENSP00000374370.3:p.Pro1026Ala
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3076C>G
  hgvsp: ENSP00000374371.5:p.Pro1026Ala
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3076C>G
  hgvsp: ENSP00000443882.1:p.Pro1026Ala
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3076C>G
  hgvsp: ENSP00000374372.3:p.Pro1026Ala
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3076C>G
  hgvsp: ENSP00000451752.1:p.Pro1026Ala
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro1026Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

14-65253611-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253611
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253611
    reference: chr 14
allele count: 2
allele frequency: 1.653603201375798e-5
allele num: 120948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3072G>A
  hgvsp: ENST00000389721.5:c.3072G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3072G>A
  hgvsp: ENST00000556626.1:c.3072G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3072G>A
  hgvsp: ENST00000389720.3:c.3072G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3072G>A
  hgvsp: ENST00000542895.1:c.3072G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3072G>A
  hgvsp: ENST00000389722.3:c.3072G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser1024Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

14-65253612-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253612
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253612
    reference: chr 14
allele count: 3
allele frequency: 2.48003571251426e-5
allele num: 120966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3071C>T
  hgvsp: ENSP00000374370.3:p.Ser1024Leu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3071C>T
  hgvsp: ENSP00000443882.1:p.Ser1024Leu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3071C>T
  hgvsp: ENSP00000374372.3:p.Ser1024Leu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3071C>T
  hgvsp: ENSP00000374371.5:p.Ser1024Leu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3071C>T
  hgvsp: ENSP00000451752.1:p.Ser1024Leu
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14761
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6768
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10018
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser1024Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

14-65253612-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253612
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253612
    reference: chr 14
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3071C>G
  hgvsp: ENSP00000451752.1:p.Ser1024Trp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3071C>G
  hgvsp: ENSP00000443882.1:p.Ser1024Trp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3071C>G
  hgvsp: ENSP00000374371.5:p.Ser1024Trp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3071C>G
  hgvsp: ENSP00000374372.3:p.Ser1024Trp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3071C>G
  hgvsp: ENSP00000374370.3:p.Ser1024Trp
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6768
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser1024Trp
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

14-65253614-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253614
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253614
    reference: chr 14
allele count: 3
allele frequency: 2.479420807299415e-5
allele num: 120996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3069C>T
  hgvsp: ENST00000389721.5:c.3069C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3069C>T
  hgvsp: ENST00000556626.1:c.3069C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3069C>T
  hgvsp: ENST00000389720.3:c.3069C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3069C>T
  hgvsp: ENST00000389722.3:c.3069C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3069C>T
  hgvsp: ENST00000542895.1:c.3069C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32145
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6768
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10025
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp1023Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

14-65253617-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253617
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253617
    reference: chr 14
allele count: 1
allele frequency: 8.263097008758882e-6
allele num: 121020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3066G>A
  hgvsp: ENSP00000374371.5:p.Met1022Ile
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3066G>A
  hgvsp: ENSP00000451752.1:p.Met1022Ile
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3066G>A
  hgvsp: ENSP00000374370.3:p.Met1022Ile
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3066G>A
  hgvsp: ENSP00000374372.3:p.Met1022Ile
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3066G>A
  hgvsp: ENSP00000443882.1:p.Met1022Ile
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6765
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met1022Ile
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

14-65253618-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253618
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253618
    reference: chr 14
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3065T>C
  hgvsp: ENSP00000374371.5:p.Met1022Thr
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3065T>C
  hgvsp: ENSP00000451752.1:p.Met1022Thr
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3065T>C
  hgvsp: ENSP00000374370.3:p.Met1022Thr
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3065T>C
  hgvsp: ENSP00000374372.3:p.Met1022Thr
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3065T>C
  hgvsp: ENSP00000443882.1:p.Met1022Thr
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 3544
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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: 253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2215
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genotype quality: GenotypeQuality
  all individuals: 6766
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genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met1022Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

14-65253634-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253634
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253634
    reference: chr 14
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3049G>A
  hgvsp: ENSP00000374370.3:p.Glu1017Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3049G>A
  hgvsp: ENSP00000451752.1:p.Glu1017Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3049G>A
  hgvsp: ENSP00000374371.5:p.Glu1017Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3049G>A
  hgvsp: ENSP00000443882.1:p.Glu1017Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3049G>A
  hgvsp: ENSP00000374372.3:p.Glu1017Lys
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  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: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu1017Lys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

14-65253636-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65253636
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65253636
    reference: chr 14
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.3047G>A
  hgvsp: ENSP00000374371.5:p.Arg1016His
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.3047G>A
  hgvsp: ENSP00000443882.1:p.Arg1016His
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.3047G>A
  hgvsp: ENSP00000374372.3:p.Arg1016His
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.3047G>A
  hgvsp: ENSP00000451752.1:p.Arg1016His
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.3047G>A
  hgvsp: ENSP00000374370.3:p.Arg1016His
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg1016His
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 158
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2753
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26787
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 625
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14262
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 5.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.582779360557138e-4
allele num: 6318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511487303506651e-5
allele num: 66160
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.01912e2

VQSLOD
type: SiteQuality
SIO_000300: -4.825e1

MQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

DP
type: SiteQuality
SIO_000300: 2.714733e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.353e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
all individuals: 1574
bin: 7.25e1
variant carriers: 44

GenotypeQuality
all individuals: 300
bin: 3.25e1
variant carriers: 21

GenotypeQuality
all individuals: 1693
bin: 7.75e1
variant carriers: 65

GenotypeQuality
all individuals: 144
bin: 1.75e1
variant carriers: 7

GenotypeQuality
all individuals: 12493
bin: 6.25e1
variant carriers: 55

GenotypeQuality
all individuals: 327
bin: 5.75e1
variant carriers: 34

African
type: Population
allele count: 6464
allele frequency: 6.286714646955845e-1
allele num: 10282
num of homozygotes: 2025

Latino
type: Population
allele count: 1898
allele frequency: 1.666666666666667e-1
allele num: 11388
num of homozygotes: 166

East Asian
type: Population
allele count: 2986
allele frequency: 3.498125585754452e-1
allele num: 8536
num of homozygotes: 553

European (Finnish)
type: Population
allele count: 1914
allele frequency: 3.088092933204259e-1
allele num: 6198
num of homozygotes: 285

South Asian
type: Population
allele count: 6653
allele frequency: 4.035055798156235e-1
allele num: 16488
num of homozygotes: 1393

Other
type: Population
allele count: 270
allele frequency: 3.054298642533937e-1
allele num: 884
num of homozygotes: 40

European (Non-Finnish)
type: Population
allele count: 20264
allele frequency: 3.077016520894072e-1
allele num: 65856
num of homozygotes: 3074

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.93e-1

FS
type: SiteQuality
SIO_000300: 4.077e0

DP
type: SiteQuality
SIO_000300: 2.937591e6

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.76e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.065e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 2.061e1

GenotypeQuality
all individuals: 1296
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3572
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3862
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001200480192077e-5
allele num: 66640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -8.010999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 3.8006e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.258e0

QD
type: SiteQuality
SIO_000300: 1.16e1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.987782e6

GenotypeQuality
all individuals: 331
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10160
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3506
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.313208420078649e-4
allele num: 8646
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.093102381688834e-4
allele num: 6466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.506805275966709e-5
allele num: 66566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.35e0

MQRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.02e-1

FS
type: SiteQuality
SIO_000300: 6.2786e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.979e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.983921e6

VQSLOD
type: SiteQuality
SIO_000300: -2.01e1

MQ
type: SiteQuality
SIO_000300: 5.749e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e-1

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

GenotypeQuality
all individuals: 1327
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10490
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.645e0

DP
type: SiteQuality
SIO_000300: 1.99529e6

QD
type: SiteQuality
SIO_000300: 1.736e1

FS
type: SiteQuality
SIO_000300: 9.9e-1

MQ
type: SiteQuality
SIO_000300: 5.808e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

GenotypeQuality
all individuals: 167
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 141
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3529
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 160
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 2190
bin: 8.25e1
variant carriers: 5

Latino
type: Population
allele count: 3
allele frequency: 2.637594513803411e-4
allele num: 11374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 76
allele frequency: 1.21258535962729e-3
allele num: 62676
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 6.234413965087282e-3
allele num: 802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 31
allele frequency: 5.798728020950243e-3
allele num: 5346
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.264462809917355e-4
allele num: 8470
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 9.541984732824427e-4
allele num: 9432
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

DP
type: SiteQuality
SIO_000300: 2.035759e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e0

FS
type: SiteQuality
SIO_000300: 1.92386e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.76e2

MQ
type: SiteQuality
SIO_000300: 5.798e1

QD
type: SiteQuality
SIO_000300: 1.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.123e0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7038
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30328
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 86
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10515
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.45e-1

FS
type: SiteQuality
SIO_000300: 1.136e1

DP
type: SiteQuality
SIO_000300: 1.999155e6

VQSLOD
type: SiteQuality
SIO_000300: -1.698e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.73e-1

QD
type: SiteQuality
SIO_000300: 1.04e1

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349163518618457e-4
allele num: 66708
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

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

South Asian
type: Population
allele count: 15
allele frequency: 9.084302325581395e-4
allele num: 16512
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

DP
type: SiteQuality
SIO_000300: 1.998929e6

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

FS
type: SiteQuality
SIO_000300: 1.751e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.382e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

GenotypeQuality
all individuals: 3586
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2367
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30520
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 8.75e1
variant carriers: 0

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: 11564
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.421e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e0

FS
type: SiteQuality
SIO_000300: 5.376e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.471e0

DP
type: SiteQuality
SIO_000300: 1.994047e6

VQSLOD
type: SiteQuality
SIO_000300: 9.27e-1

GenotypeQuality
all individuals: 30491
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3580
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GenotypeQuality
all individuals: 2359
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 8650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.768e0

VQSLOD
type: SiteQuality
SIO_000300: -2.24e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.993406e6

FS
type: SiteQuality
SIO_000300: 3.168e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 1.285e1

MQRankSum
type: SiteQuality
SIO_000300: -4.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

MQ
type: SiteQuality
SIO_000300: 5.901e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3550
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
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: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

QD
type: SiteQuality
SIO_000300: 1.316e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.21e-1

FS
type: SiteQuality
SIO_000300: 4.71e0

DP
type: SiteQuality
SIO_000300: 1.992306e6

MQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1024
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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.321e-1

FS
type: SiteQuality
SIO_000300: 2.012e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

DP
type: SiteQuality
SIO_000300: 1.990721e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.72e0

QD
type: SiteQuality
SIO_000300: 1.216e1

MQ
type: SiteQuality
SIO_000300: 6.046e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2339
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variant carriers: 0

GenotypeQuality
all individuals: 3525
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.240882103477523e-4
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 6608
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 5.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.990678e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.462e0

QD
type: SiteQuality
SIO_000300: 1.247e1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 10325
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.991e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 1.989841e6

QD
type: SiteQuality
SIO_000300: 1.224e1

MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.99e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 906
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.989012e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.3476e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.643e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.778e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.496027105634013e-5
allele num: 66702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 11562
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.86e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.9e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.987396e6

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.82e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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allele num: 906
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.557e1

FS
type: SiteQuality
SIO_000300: 1.199e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
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South Asian
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num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2303
bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 13
allele frequency: 7.874015748031496e-4
allele num: 16510
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66704
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Other
type: Population
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allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

MQRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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ClippingRankSum
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FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 30886
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GenotypeQuality
all individuals: 78
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variant carriers: 0

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

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

South Asian
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allele 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: 11562
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.002e0

DP
type: SiteQuality
SIO_000300: 1.986448e6

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

VQSLOD
type: SiteQuality
SIO_000300: 3.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.450581395348837e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

East Asian
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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: 11562
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.986288e6

FS
type: SiteQuality
SIO_000300: 4.222e0

VQSLOD
type: SiteQuality
SIO_000300: 9.61e-1

MQ
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SIO_000300: 5.951e1

QD
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.23e-1

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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: 11560
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.05e-1

QD
type: SiteQuality
SIO_000300: 1.148e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.985285e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 11560
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.44e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 9.49e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.036e0

DP
type: SiteQuality
SIO_000300: 1.985229e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

South Asian
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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: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

DP
type: SiteQuality
SIO_000300: 1.985126e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.787e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

VQSLOD
type: SiteQuality
SIO_000300: 2.46e-1

FS
type: SiteQuality
SIO_000300: 8.311999999999999e0

QD
type: SiteQuality
SIO_000300: 1.296e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 70
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GenotypeQuality
all individuals: 10290
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
SIO_000300: 1.984718e6

MQ
type: SiteQuality
SIO_000300: 5.8e1

MQRankSum
type: SiteQuality
SIO_000300: -7.24e-1

QD
type: SiteQuality
SIO_000300: 1.044e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e-1

FS
type: SiteQuality
SIO_000300: 3.012e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.722e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 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: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
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: 906
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

QD
type: SiteQuality
SIO_000300: 8.15e0

FS
type: SiteQuality
SIO_000300: 4.925e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
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

East Asian
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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: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.41e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.915e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 48

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 3.459010722933241e-4
allele num: 11564
num of homozygotes: 0

South Asian
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European (Finnish)
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East Asian
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allele frequency: 3.467406380027739e-4
allele num: 8652
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African
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allele count: 39
allele frequency: 3.75e-3
allele num: 10400
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.998410842253606e-5
allele num: 66702
num of homozygotes: 0

Other
type: Population
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allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
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QD
type: SiteQuality
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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African
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.497616263380409e-5
allele num: 66702
num of homozygotes: 0

South Asian
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allele num: 16512
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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VQSLOD
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ReadPosRankSum
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FS
type: SiteQuality
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MQ
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MQRankSum
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Latino
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East Asian
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

Other
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allele num: 906
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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DP
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ReadPosRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

Other
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South Asian
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allele num: 16512
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

QD
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SIO_000300: 1.256e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.082e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

East Asian
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allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.997390756680563e-5
allele num: 66686
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.984355e6

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

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.49e-1

VQSLOD
type: SiteQuality
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DP
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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FS
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.466e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

Latino
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allele count: 9
allele frequency: 7.782774126599793e-4
allele num: 11564
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.17e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.998860433035446e-5
allele num: 66692
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

Latino
type: Population
allele count: 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: 6612
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.774e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

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

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

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

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

East Asian
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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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.77e-1

FS
type: SiteQuality
SIO_000300: 7.912e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.36e-1

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 5
allele frequency: 4.821600771456124e-4
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.464e0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

Latino
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allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 5.45e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

Other
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allele frequency: 1.103752759381898e-3
allele num: 906
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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DP
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VQSLOD
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ReadPosRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66668
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East Asian
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Latino
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European (Finnish)
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African
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Other
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South Asian
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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DP
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MQRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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allele num: 66634
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Latino
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African
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Other
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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VQSLOD
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QD
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DP
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ReadPosRankSum
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
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Latino
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allele frequency: 6.050129645635263e-4
allele num: 11570
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.454e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

QD
type: SiteQuality
SIO_000300: 1.26e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.97741e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 9
allele frequency: 1.351391933691703e-4
allele num: 66598
num of homozygotes: 0

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

South Asian
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allele count: 53
allele frequency: 3.210953592632982e-3
allele num: 16506
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

DP
type: SiteQuality
SIO_000300: 1.978816e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.508e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.239e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

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

Latino
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allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.014693951140358e-5
allele num: 66558
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

African
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allele count: 2
allele frequency: 1.958480219349785e-4
allele num: 10212
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.312e0

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.97085e6

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
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VQSLOD
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SIO_000300: -2.127e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

QD
type: SiteQuality
SIO_000300: 2.174e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16504
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.07e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.967904e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

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

Latino
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allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
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allele count: 10
allele frequency: 1.504890895410083e-4
allele num: 66450
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.176e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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Latino
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allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505162708088744e-5
allele num: 66438
num of homozygotes: 0

Other
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allele num: 906
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.992e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505479947007106e-5
allele num: 66424
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East Asian
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allele frequency: 0.0e0
allele num: 8650
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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Other
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QD
type: SiteQuality
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ReadPosRankSum
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DP
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 2.980922098569157e-4
allele num: 10064
num of homozygotes: 0

East Asian
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Latino
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European (Finnish)
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allele num: 6614
num of homozygotes: 0

South Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66410
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BaseQRankSum
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MQ
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QD
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MQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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allele num: 66350
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Other
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European (Finnish)
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Latino
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African
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MQ
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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DP
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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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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South Asian
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Other
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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FS
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BaseQRankSum
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ClippingRankSum
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DP
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Other
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African
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Latino
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European (Non-Finnish)
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allele num: 66304
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East Asian
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MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 1.964198e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.15e1

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -6.337e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2213
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31367
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66316
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.918021445866483e-4
allele num: 11564
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

FS
type: SiteQuality
SIO_000300: 5.237e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

DP
type: SiteQuality
SIO_000300: 1.964606e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.136e0

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.78e-1

QD
type: SiteQuality
SIO_000300: 1.23e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2215
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
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: 8630
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508659706716553e-5
allele num: 66284
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.904e0

QD
type: SiteQuality
SIO_000300: 1.483e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.558e0

DP
type: SiteQuality
SIO_000300: 1.964523e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1199
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.052504526252263e-5
allele num: 66280
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 1.776e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

QD
type: SiteQuality
SIO_000300: 1.242e1

MQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.965822e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 31477
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508614187007815e-5
allele num: 66286
num of homozygotes: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.276e1

MQ
type: SiteQuality
SIO_000300: 5.987e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.965664e6

VQSLOD
type: SiteQuality
SIO_000300: -2.424e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.671e0

MQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.73e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 2215
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 39
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GenotypeQuality
all individuals: 3322
bin: 7.25e1
variant carriers: 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: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
SIO_000300: 1.966628e6

VQSLOD
type: SiteQuality
SIO_000300: -1.379e-1

FS
type: SiteQuality
SIO_000300: 7.63e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e-1

QD
type: SiteQuality
SIO_000300: 1.226e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.752e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.525842561023444e-5
allele num: 66286
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.914e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

QD
type: SiteQuality
SIO_000300: 1.028e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.98e-1

DP
type: SiteQuality
SIO_000300: 1.967086e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.794e0

GenotypeQuality
all individuals: 407
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

QD
type: SiteQuality
SIO_000300: 1.224e1

DP
type: SiteQuality
SIO_000300: 1.967177e6

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508659706716553e-5
allele num: 66284
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.322e0

QD
type: SiteQuality
SIO_000300: 1.495e1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.629e0

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.61e-1

DP
type: SiteQuality
SIO_000300: 1.967799e6

MQ
type: SiteQuality
SIO_000300: 5.885e1

GenotypeQuality
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variant carriers: 54

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 130
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 48
allele frequency: 5.561993047508691e-3
allele num: 8630
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.526525439072967e-5
allele num: 66276
num of homozygotes: 0

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

Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.157e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

DP
type: SiteQuality
SIO_000300: 1.971913e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.33e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
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: 11566
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.508250128201261e-4
allele num: 66302
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.117e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.212e0

DP
type: SiteQuality
SIO_000300: 1.968831e6

QD
type: SiteQuality
SIO_000300: 1.015e1

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
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GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 31903
bin: 6.25e1
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GenotypeQuality
all individuals: 1196
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variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
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: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508250128201261e-5
allele num: 66302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.623e0

QD
type: SiteQuality
SIO_000300: 1.221e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 1.968289e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.52e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.508295625942685e-5
allele num: 66300
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.046e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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FS
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.373e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66352
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Latino
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allele num: 11570
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East Asian
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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African
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allele frequency: 0.0e0
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Other
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
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InbreedingCoeff
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DP
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.67e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

African
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allele count: 1
allele frequency: 9.669309611293753e-5
allele num: 10342
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66372
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.195e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.970217e6

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 2
allele frequency: 1.933861922258751e-4
allele num: 10342
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8638
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506341698550899e-5
allele num: 66386
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 906
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.970797e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10342
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East Asian
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allele frequency: 0.0e0
allele num: 8638
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506341698550899e-5
allele num: 66386
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16510
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DP
type: SiteQuality
SIO_000300: 1.970797e6

QD
type: SiteQuality
SIO_000300: 1.331e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.918e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

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

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10348
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.517528008673654e-5
allele num: 66408
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Other
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allele frequency: 0.0e0
allele num: 906
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East Asian
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allele frequency: 0.0e0
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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Other
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66424
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East Asian
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allele frequency: 0.0e0
allele num: 8642
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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DP
type: SiteQuality
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VQSLOD
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MQ
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ClippingRankSum
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BaseQRankSum
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FS
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QD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16512
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East Asian
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allele frequency: 1.157139551029854e-4
allele num: 8642
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Latino
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Other
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allele frequency: 0.0e0
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African
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European (Finnish)
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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: 66436
num of homozygotes: 0

ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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FS
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MQ
type: SiteQuality
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VQSLOD
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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Latino
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66516
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European (Finnish)
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South Asian
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East Asian
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Other
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ReadPosRankSum
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VQSLOD
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MQ
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FS
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DP
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ClippingRankSum
type: SiteQuality
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QD
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MQRankSum
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