12-23696369-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23696369
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23696369
    reference: chr 12
allele count: 138
allele frequency: 1.17000712178248e-3
allele num: 117948
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1598-51G>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-51G>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1235-51G>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1235-51G>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1568-51G>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1559-51G>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1493-51G>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.440-51G>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1559-51G>C
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7755
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6615
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25336
  bin: 9.75e1
  variant carriers: 135
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3845
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 2
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

12-23699221-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23699221
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23699221
    reference: chr 12
allele count: 3
allele frequency: 2.541855893716532e-5
allele num: 118024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1234+29A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1558+29A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1597+29A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1492+29A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1567+29A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-2903A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1558+29A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1234+29A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.439+29A>G
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7253
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

12-23699223-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23699223
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23699223
    reference: chr 12
allele count: 2
allele frequency: 1.691990118777706e-5
allele num: 118204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1234+27C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1558+27C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1492+27C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1558+27C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1234+27C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1567+27C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.439+27C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-2905C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1597+27C>T
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8569
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

12-23699223-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23699223
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23699223
    reference: chr 12
allele count: 1
allele frequency: 8.459950593888532e-6
allele num: 118204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1492+27C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-2905C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1597+27C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1234+27C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1567+27C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1558+27C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1234+27C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1558+27C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.439+27C>G
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/12-23699225-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23699225
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23699225
    reference: chr 12
allele count: 1
allele frequency: 8.445945945945946e-6
allele num: 118400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1558+25T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1234+25T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1492+25T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1558+25T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-2907T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1567+25T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.439+25T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1234+25T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1597+25T>G
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

12-23699228-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23699228
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23699228
    reference: chr 12
allele count: 1
allele frequency: 8.434263351438885e-6
allele num: 118564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-2910A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1558+22A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1567+22A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1558+22A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1492+22A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1234+22A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1597+22A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1234+22A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.439+22A>G
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7301
  bin: 6.75e1
  variant carriers: 0
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: T
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

12-23699229-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23699229
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23699229
    reference: chr 12
allele count: 1
allele frequency: 8.442523301364311e-6
allele num: 118448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1492+21C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1234+21C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1597+21C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1558+21C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.439+21C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1567+21C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-2911C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1234+21C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1558+21C>T
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

12-23699242-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23699242
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23699242
    reference: chr 12
allele count: 1
allele frequency: 8.35952651641811e-6
allele num: 119624
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1234+8A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1234+8A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1597+8A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.439+8A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1558+8A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1492+8A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1567+8A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1558+8A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-2924A>G
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31228
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1597+8A>G
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

12-23699254-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23699254
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23699254
    reference: chr 12
allele count: 13
allele frequency: 1.077925739208305e-4
allele num: 120602
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1230T>C
  hgvsp: ENST00000541536.1:c.1230T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1593T>C
  hgvsp: ENST00000451604.2:c.1593T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-2936T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.435T>C
  hgvsp: ENST00000396007.2:c.435T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1554T>C
  hgvsp: ENST00000546136.1:c.1554T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1554T>C
  hgvsp: ENST00000309359.1:c.1554T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1230T>C
  hgvsp: ENST00000381381.2:c.1230T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1563T>C
  hgvsp: ENST00000545921.1:c.1563T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1488T>C
  hgvsp: ENST00000537393.1:c.1488T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17038
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10598
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8564
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser531Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

12-23699270-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23699270
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23699270
    reference: chr 12
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1547A>G
  hgvsp: ENSP00000443520.1:p.Asn516Ser
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1214A>G
  hgvsp: ENSP00000370788.2:p.Asn405Ser
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1472A>G
  hgvsp: ENSP00000439832.1:p.Asn491Ser
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1577A>G
  hgvsp: ENSP00000398273.2:p.Asn526Ser
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1538A>G
  hgvsp: ENSP00000308927.1:p.Asn513Ser
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.419A>G
  hgvsp: ENSP00000379328.2:p.Asn140Ser
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-2952A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1538A>G
  hgvsp: ENSP00000437487.1:p.Asn513Ser
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1214A>G
  hgvsp: ENSP00000441973.1:p.Asn405Ser
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn526Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

12-23699275-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23699275
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23699275
    reference: chr 12
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1209T>C
  hgvsp: ENST00000381381.2:c.1209T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1467T>C
  hgvsp: ENST00000537393.1:c.1467T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1209T>C
  hgvsp: ENST00000541536.1:c.1209T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1572T>C
  hgvsp: ENST00000451604.2:c.1572T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-2957T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1533T>C
  hgvsp: ENST00000309359.1:c.1533T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1542T>C
  hgvsp: ENST00000545921.1:c.1542T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.414T>C
  hgvsp: ENST00000396007.2:c.414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1533T>C
  hgvsp: ENST00000546136.1:c.1533T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7499
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp524Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

12-23699279-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23699279
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23699279
    reference: chr 12
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.410T>C
  hgvsp: ENSP00000379328.2:p.Met137Thr
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1538T>C
  hgvsp: ENSP00000443520.1:p.Met513Thr
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1463T>C
  hgvsp: ENSP00000439832.1:p.Met488Thr
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1205T>C
  hgvsp: ENSP00000441973.1:p.Met402Thr
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1529T>C
  hgvsp: ENSP00000437487.1:p.Met510Thr
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-2961T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1205T>C
  hgvsp: ENSP00000370788.2:p.Met402Thr
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1529T>C
  hgvsp: ENSP00000308927.1:p.Met510Thr
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1568T>C
  hgvsp: ENSP00000398273.2:p.Met523Thr
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met523Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

12-23699283-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23699283
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23699283
    reference: chr 12
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1459A>G
  hgvsp: ENSP00000439832.1:p.Met487Val
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1564A>G
  hgvsp: ENSP00000398273.2:p.Met522Val
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1525A>G
  hgvsp: ENSP00000437487.1:p.Met509Val
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-2965A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1201A>G
  hgvsp: ENSP00000441973.1:p.Met401Val
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1534A>G
  hgvsp: ENSP00000443520.1:p.Met512Val
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1201A>G
  hgvsp: ENSP00000370788.2:p.Met401Val
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.406A>G
  hgvsp: ENSP00000379328.2:p.Met136Val
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1525A>G
  hgvsp: ENSP00000308927.1:p.Met509Val
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met522Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-23699287-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23699287
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23699287
    reference: chr 12
allele count: 6
allele frequency: 4.950168305722395e-5
allele num: 121208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1521T>C
  hgvsp: ENST00000309359.1:c.1521T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1530T>C
  hgvsp: ENST00000545921.1:c.1530T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.402T>C
  hgvsp: ENST00000396007.2:c.402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1455T>C
  hgvsp: ENST00000537393.1:c.1455T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1521T>C
  hgvsp: ENST00000546136.1:c.1521T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1197T>C
  hgvsp: ENST00000541536.1:c.1197T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1197T>C
  hgvsp: ENST00000381381.2:c.1197T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-2969T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1560T>C
  hgvsp: ENST00000451604.2:c.1560T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His520His
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

12-23699295-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23699295
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23699295
    reference: chr 12
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.394T>C
  hgvsp: ENSP00000379328.2:p.Phe132Leu
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1189T>C
  hgvsp: ENSP00000370788.2:p.Phe397Leu
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1447T>C
  hgvsp: ENSP00000439832.1:p.Phe483Leu
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1522T>C
  hgvsp: ENSP00000443520.1:p.Phe508Leu
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1189T>C
  hgvsp: ENSP00000441973.1:p.Phe397Leu
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1552T>C
  hgvsp: ENSP00000398273.2:p.Phe518Leu
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1513T>C
  hgvsp: ENSP00000308927.1:p.Phe505Leu
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1513T>C
  hgvsp: ENSP00000437487.1:p.Phe505Leu
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-2977T>C
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe518Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-23699319-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23699319
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23699319
    reference: chr 12
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-3001G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1489G>T
  hgvsp: ENSP00000308927.1:p.Val497Phe
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1528G>T
  hgvsp: ENSP00000398273.2:p.Val510Phe
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1423G>T
  hgvsp: ENSP00000439832.1:p.Val475Phe
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1489G>T
  hgvsp: ENSP00000437487.1:p.Val497Phe
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.370G>T
  hgvsp: ENSP00000379328.2:p.Val124Phe
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1165G>T
  hgvsp: ENSP00000441973.1:p.Val389Phe
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1498G>T
  hgvsp: ENSP00000443520.1:p.Val500Phe
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1165G>T
  hgvsp: ENSP00000370788.2:p.Val389Phe
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8552
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val510Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-23699362-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23699362
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23699363
    reference: chr 12
allele count: 22
allele frequency: 1.836669950409911e-4
allele num: 119782
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1384-5dupT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.331-5dupT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-5dupT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1459-5dupT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-5dupT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-3045dupT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1450-5dupT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1489-5dupT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1450-5dupT
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15769
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18516
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8568
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1489-5dupT
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

12-23699371-TATA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23699371
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23699368
    reference: chr 12
allele count: 1
allele frequency: 8.383072899201931e-6
allele num: 119288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.331-16_331-14delTAT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-3056_1459-3054delTAT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16_1126-14delTAT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1459-16_1459-14delTAT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1450-16_1450-14delTAT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1450-16_1450-14delTAT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16_1126-14delTAT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1489-16_1489-14delTAT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1384-16_1384-14delTAT
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: TATA
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-23699373-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23699373
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23699373
    reference: chr 12
allele count: 1
allele frequency: 8.397292712829384e-6
allele num: 119086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1384-15A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1450-15A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-3055A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1489-15A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1450-15A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-15A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.331-15A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1459-15A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-15A>G
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8549
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

12-23699393-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23699393
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23699393
    reference: chr 12
allele count: 1
allele frequency: 8.532714427113554e-6
allele num: 117196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.331-35T>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-35T>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1450-35T>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1384-35T>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1450-35T>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1459-35T>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1489-35T>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-3075T>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-35T>A
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20259
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

12-23699401-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23699401
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23699401
    reference: chr 12
allele count: 1
allele frequency: 8.610297916307904e-6
allele num: 116140
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1489-43A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-43A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-3083A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.331-43A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1459-43A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1384-43A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-43A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1450-43A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1450-43A>G
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12608
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

12-23699405-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23699405
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23699405
    reference: chr 12
allele count: 1
allele frequency: 8.666262241095416e-6
allele num: 115390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1459-47A>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1384-47A>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1450-47A>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1450-47A>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.331-47A>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1459-3087A>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-47A>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1489-47A>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-47A>C
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8767
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8537
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-23716143-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716143
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716143
    reference: chr 12
allele count: 39
allele frequency: 3.260924095720664e-4
allele num: 119598
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1383+49C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.330+49C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1458+49C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1488+49C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1449+49C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1449+49C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1458+49C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16785C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16785C>G
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7483
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3242
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

12-23716145-CAATTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716145
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716140
    reference: chr 12
allele count: 1
allele frequency: 8.369181326682624e-6
allele num: 119486
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1488+42_1488+46delAAATT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.330+42_330+46delAAATT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1458+42_1458+46delAAATT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1383+42_1383+46delAAATT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1458+42_1458+46delAAATT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1449+42_1449+46delAAATT
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1449+42_1449+46delAAATT
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6792
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33705
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: CAATTT
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP

12-23716148-TTTAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716148
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716144
    reference: chr 12
allele count: 1
allele frequency: 8.357011532675915e-6
allele num: 119660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1458+40_1458+43delTTAA
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1488+40_1488+43delTTAA
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16794_1126-16791delTTAA
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1449+40_1449+43delTTAA
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.330+40_330+43delTTAA
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1383+40_1383+43delTTAA
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16794_1126-16791delTTAA
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1458+40_1458+43delTTAA
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1449+40_1449+43delTTAA
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5591
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: TTTAA
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

12-23716170-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716170
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716170
    reference: chr 12
allele count: 1
allele frequency: 8.318775476249896e-6
allele num: 120210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16812C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1458+22C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1383+22C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16812C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1458+22C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1488+22C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.330+22C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1449+22C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1449+22C>G
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33735
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

12-23716171-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716171
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716171
    reference: chr 12
allele count: 2
allele frequency: 1.6632569898375e-5
allele num: 120246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1458+21A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16813A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16813A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1383+21A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.330+21A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1488+21A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1458+21A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1449+21A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1449+21A>G
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/12-23716173-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716173
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716173
    reference: chr 12
allele count: 1
allele frequency: 8.308408109006315e-6
allele num: 120360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1458+19T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1449+19T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1383+19T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16815T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1458+19T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16815T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1488+19T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.330+19T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1449+19T>G
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33739
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3307
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS

12-23716178-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716178
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716178
    reference: chr 12
allele count: 1
allele frequency: 8.295863682367972e-6
allele num: 120542
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.330+14A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16820A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1383+14A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1458+14A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1449+14A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1458+14A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16820A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1488+14A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1449+14A>G
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

12-23716179-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716179
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716179
    reference: chr 12
allele count: 1
allele frequency: 8.291873963515755e-6
allele num: 120600
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1449+13A>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1449+13A>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1458+13A>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16821A>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1383+13A>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16821A>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.330+13A>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1458+13A>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1488+13A>C
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9243
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

12-23716184-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716184
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716184
    reference: chr 12
allele count: 1
allele frequency: 8.276501357346223e-6
allele num: 120824
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1458+8C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1458+8C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.330+8C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1383+8C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1449+8C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1488+8C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1449+8C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16826C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16826C>G
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9509
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1488+8C>G
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-23716188-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716188
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716188
    reference: chr 12
allele count: 1
allele frequency: 8.265692417053776e-6
allele num: 120982
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16830A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.330+4A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1458+4A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1449+4A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16830A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1488+4A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1458+4A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1383+4A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1449+4A>G
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1488+4A>G
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

12-23716199-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716199
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716199
    reference: chr 12
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1376C>T
  hgvsp: ENSP00000439832.1:p.Thr459Ile
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1451C>T
  hgvsp: ENSP00000443520.1:p.Thr484Ile
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1442C>T
  hgvsp: ENSP00000437487.1:p.Thr481Ile
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1481C>T
  hgvsp: ENSP00000398273.2:p.Thr494Ile
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.323C>T
  hgvsp: ENSP00000379328.2:p.Thr108Ile
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1451C>T
  hgvsp: ENSP00000356174.3:p.Thr484Ile
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16841C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1442C>T
  hgvsp: ENSP00000308927.1:p.Thr481Ile
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16841C>T
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr494Ile
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-23716202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716202
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716202
    reference: chr 12
allele count: 3
allele frequency: 2.474675817467912e-5
allele num: 121228
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1478G>A
  hgvsp: ENSP00000398273.2:p.Arg493Gln
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1439G>A
  hgvsp: ENSP00000437487.1:p.Arg480Gln
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1448G>A
  hgvsp: ENSP00000356174.3:p.Arg483Gln
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.320G>A
  hgvsp: ENSP00000379328.2:p.Arg107Gln
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1373G>A
  hgvsp: ENSP00000439832.1:p.Arg458Gln
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1448G>A
  hgvsp: ENSP00000443520.1:p.Arg483Gln
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16844G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16844G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1439G>A
  hgvsp: ENSP00000308927.1:p.Arg480Gln
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9961
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg493Gln
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

12-23716217-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716217
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716217
    reference: chr 12
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1433G>A
  hgvsp: ENSP00000356174.3:p.Gly478Asp
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1463G>A
  hgvsp: ENSP00000398273.2:p.Gly488Asp
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1358G>A
  hgvsp: ENSP00000439832.1:p.Gly453Asp
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1433G>A
  hgvsp: ENSP00000443520.1:p.Gly478Asp
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.305G>A
  hgvsp: ENSP00000379328.2:p.Gly102Asp
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1424G>A
  hgvsp: ENSP00000437487.1:p.Gly475Asp
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16859G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16859G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1424G>A
  hgvsp: ENSP00000308927.1:p.Gly475Asp
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly488Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-23716223-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716223
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716223
    reference: chr 12
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1418G>A
  hgvsp: ENSP00000308927.1:p.Ser473Asn
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1427G>A
  hgvsp: ENSP00000443520.1:p.Ser476Asn
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1418G>A
  hgvsp: ENSP00000437487.1:p.Ser473Asn
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1352G>A
  hgvsp: ENSP00000439832.1:p.Ser451Asn
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16865G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1457G>A
  hgvsp: ENSP00000398273.2:p.Ser486Asn
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16865G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1427G>A
  hgvsp: ENSP00000356174.3:p.Ser476Asn
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.299G>A
  hgvsp: ENSP00000379328.2:p.Ser100Asn
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33738
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10084
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser486Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

12-23716225-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716225
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716225
    reference: chr 12
allele count: 5
allele frequency: 4.120856478810556e-5
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1455T>A
  hgvsp: ENSP00000398273.2:p.Asn485Lys
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1425T>A
  hgvsp: ENSP00000443520.1:p.Asn475Lys
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.297T>A
  hgvsp: ENSP00000379328.2:p.Asn99Lys
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1350T>A
  hgvsp: ENSP00000439832.1:p.Asn450Lys
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1416T>A
  hgvsp: ENSP00000308927.1:p.Asn472Lys
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16867T>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16867T>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1425T>A
  hgvsp: ENSP00000356174.3:p.Asn475Lys
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1416T>A
  hgvsp: ENSP00000437487.1:p.Asn472Lys
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn485Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD

12-23716232-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716232
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716232
    reference: chr 12
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1418T>C
  hgvsp: ENSP00000443520.1:p.Val473Ala
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1409T>C
  hgvsp: ENSP00000437487.1:p.Val470Ala
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1343T>C
  hgvsp: ENSP00000439832.1:p.Val448Ala
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1409T>C
  hgvsp: ENSP00000308927.1:p.Val470Ala
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.290T>C
  hgvsp: ENSP00000379328.2:p.Val97Ala
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16874T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1418T>C
  hgvsp: ENSP00000356174.3:p.Val473Ala
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16874T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1448T>C
  hgvsp: ENSP00000398273.2:p.Val483Ala
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val483Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

12-23716246-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716246
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716246
    reference: chr 12
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1404T>C
  hgvsp: ENST00000367206.3:c.1404T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1395T>C
  hgvsp: ENST00000309359.1:c.1395T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1434T>C
  hgvsp: ENST00000451604.2:c.1434T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1329T>C
  hgvsp: ENST00000537393.1:c.1329T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1404T>C
  hgvsp: ENST00000545921.1:c.1404T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1395T>C
  hgvsp: ENST00000546136.1:c.1395T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.276T>C
  hgvsp: ENST00000396007.2:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16888T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16888T>C
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp478Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

12-23716248-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716248
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716248
    reference: chr 12
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1393G>A
  hgvsp: ENSP00000308927.1:p.Asp465Asn
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1402G>A
  hgvsp: ENSP00000443520.1:p.Asp468Asn
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.274G>A
  hgvsp: ENSP00000379328.2:p.Asp92Asn
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1432G>A
  hgvsp: ENSP00000398273.2:p.Asp478Asn
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1402G>A
  hgvsp: ENSP00000356174.3:p.Asp468Asn
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16890G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1327G>A
  hgvsp: ENSP00000439832.1:p.Asp443Asn
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1393G>A
  hgvsp: ENSP00000437487.1:p.Asp465Asn
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16890G>A
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp478Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

12-23716266-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716266
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716266
    reference: chr 12
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.560C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1384C>T
  hgvsp: ENSP00000356174.3:p.Arg462Trp
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1309C>T
  hgvsp: ENSP00000439832.1:p.Arg437Trp
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.256C>T
  hgvsp: ENSP00000379328.2:p.Arg86Trp
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1375C>T
  hgvsp: ENSP00000437487.1:p.Arg459Trp
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1384C>T
  hgvsp: ENSP00000443520.1:p.Arg462Trp
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1414C>T
  hgvsp: ENSP00000398273.2:p.Arg472Trp
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16908C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1375C>T
  hgvsp: ENSP00000308927.1:p.Arg459Trp
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16908C>T
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg472Trp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-23716268-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716268
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716268
    reference: chr 12
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1382G>A
  hgvsp: ENSP00000356174.3:p.Arg461Gln
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1412G>A
  hgvsp: ENSP00000398273.2:p.Arg471Gln
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.254G>A
  hgvsp: ENSP00000379328.2:p.Arg85Gln
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1373G>A
  hgvsp: ENSP00000308927.1:p.Arg458Gln
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1382G>A
  hgvsp: ENSP00000443520.1:p.Arg461Gln
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1307G>A
  hgvsp: ENSP00000439832.1:p.Arg436Gln
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.558G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16910G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16910G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1373G>A
  hgvsp: ENSP00000437487.1:p.Arg458Gln
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg471Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum

12-23716289-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716289
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716289
    reference: chr 12
allele count: 12
allele frequency: 9.887447884910107e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1361G>A
  hgvsp: ENSP00000356174.3:p.Arg454Gln
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16931G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1361G>A
  hgvsp: ENSP00000443520.1:p.Arg454Gln
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.233G>A
  hgvsp: ENSP00000379328.2:p.Arg78Gln
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1352G>A
  hgvsp: ENSP00000437487.1:p.Arg451Gln
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1286G>A
  hgvsp: ENSP00000439832.1:p.Arg429Gln
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16931G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1391G>A
  hgvsp: ENSP00000398273.2:p.Arg464Gln
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1352G>A
  hgvsp: ENSP00000308927.1:p.Arg451Gln
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.537G>A
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg464Gln
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

12-23716292-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716292
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716292
    reference: chr 12
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1349C>G
  hgvsp: ENSP00000308927.1:p.Ala450Gly
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1388C>G
  hgvsp: ENSP00000398273.2:p.Ala463Gly
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1358C>G
  hgvsp: ENSP00000356174.3:p.Ala453Gly
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1283C>G
  hgvsp: ENSP00000439832.1:p.Ala428Gly
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16934C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16934C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.230C>G
  hgvsp: ENSP00000379328.2:p.Ala77Gly
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1358C>G
  hgvsp: ENSP00000443520.1:p.Ala453Gly
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.534C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1349C>G
  hgvsp: ENSP00000437487.1:p.Ala450Gly
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33742
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala463Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

12-23716309-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716309
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716309
    reference: chr 12
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16951C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.517C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1371C>T
  hgvsp: ENST00000451604.2:c.1371C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.213C>T
  hgvsp: ENST00000396007.2:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1332C>T
  hgvsp: ENST00000546136.1:c.1332C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1341C>T
  hgvsp: ENST00000545921.1:c.1341C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1332C>T
  hgvsp: ENST00000309359.1:c.1332C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1341C>T
  hgvsp: ENST00000367206.3:c.1341C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16951C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1266C>T
  hgvsp: ENST00000537393.1:c.1266C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr457Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/12-23716318-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716318
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716318
    reference: chr 12
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1332T>G
  hgvsp: ENSP00000356174.3:p.Asp444Glu
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1332T>G
  hgvsp: ENSP00000443520.1:p.Asp444Glu
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16960T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1362T>G
  hgvsp: ENSP00000398273.2:p.Asp454Glu
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1323T>G
  hgvsp: ENSP00000308927.1:p.Asp441Glu
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.508T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.204T>G
  hgvsp: ENSP00000379328.2:p.Asp68Glu
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1257T>G
  hgvsp: ENSP00000439832.1:p.Asp419Glu
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16960T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1323T>G
  hgvsp: ENSP00000437487.1:p.Asp441Glu
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7245
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp454Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-23716348-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716348
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716348
    reference: chr 12
allele count: 10
allele frequency: 8.263233568560048e-5
allele num: 121018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1304-11C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1343-11C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16990C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1313-11C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1313-11C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-11C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16990C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1238-11C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.185-11C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1304-11C>T
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9223
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-23716355-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716355
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716355
    reference: chr 12
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1313-18G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.185-18G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-18G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1343-18G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-16997G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1304-18G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-16997G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1238-18G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1304-18G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1313-18G>T
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6431
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

12-23716365-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716365
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716366
    reference: chr 12
allele count: 1
allele frequency: 8.27787159365584e-6
allele num: 120804
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-17008dupA
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-17008dupA
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1304-29dupA
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1343-29dupA
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1238-29dupA
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1313-29dupA
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-29dupA
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.185-29dupA
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1313-29dupA
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1304-29dupA
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 6520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

12-23716366-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716366
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716366
    reference: chr 12
allele count: 3
allele frequency: 2.483279253029601e-5
allele num: 120808
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1304-29A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1238-29A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1313-29A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-29A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1304-29A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1313-29A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-17008A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-17008A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.185-29A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1343-29A>G
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

12-23716371-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716371
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716371
    reference: chr 12
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1238-34A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1304-34A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1304-34A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-17013A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.185-34A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1313-34A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1313-34A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-17013A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1343-34A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-34A>G
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33739
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-23716378-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716378
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716378
    reference: chr 12
allele count: 121
allele frequency: 1.003216927005605e-3
allele num: 120612
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1343-41C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-17020C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1304-41C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-17020C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1313-41C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1313-41C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1304-41C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1238-41C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.185-41C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-41C>T
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7530
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 6.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-23716379-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716379
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716379
    reference: chr 12
allele count: 5
allele frequency: 4.148138315523993e-5
allele num: 120536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-17021G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1304-42G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.185-42G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1313-42G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-42G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1313-42G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-17021G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1238-42G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1343-42G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1304-42G>A
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5737
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

12-23716382-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716382
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716382
    reference: chr 12
allele count: 1
allele frequency: 8.296689620841284e-6
allele num: 120530
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1343-45C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.185-45C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-17024C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-45C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1313-45C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1304-45C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1313-45C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-17024C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1304-45C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1238-45C>G
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

12-23716386-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716386
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716386
    reference: chr 12
allele count: 1
allele frequency: 8.30923654734603e-6
allele num: 120348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1313-49T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1238-49T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1304-49T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1313-49T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.185-49T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-17028T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1304-49T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-49T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1343-49T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-17028T>C
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-23716387-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23716387
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23716387
    reference: chr 12
allele count: 3
allele frequency: 2.49409730304945e-5
allele num: 120284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1126-17029C>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1126-17029C>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1238-50C>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-50C>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1313-50C>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1313-50C>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1304-50C>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1343-50C>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.185-50C>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1304-50C>A
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-23728546-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23728546
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23728546
    reference: chr 12
allele count: 1
allele frequency: 8.329168748958854e-6
allele num: 120060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1125+28775G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1312+49G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1342+49G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1125+28775G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-12209G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1303+49G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1303+49G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1312+49G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.184+49G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1237+49G>T
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7660
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/12-23728559-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23728559
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23728559
    reference: chr 12
allele count: 1
allele frequency: 8.310065150910783e-6
allele num: 120336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1312+36G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1125+28762G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1342+36G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.184+36G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-12222G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1125+28762G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1237+36G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1303+36G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1312+36G>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1303+36G>T
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13719
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22919
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

12-23728573-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23728573
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23728573
    reference: chr 12
allele count: 4
allele frequency: 3.314111486710413e-5
allele num: 120696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1125+28748C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-12236C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1312+22C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1303+22C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1125+28748C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1303+22C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1312+22C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1342+22C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.184+22C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1237+22C>T
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

12-23728586-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23728586
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23728586
    reference: chr 12
allele count: 1
allele frequency: 8.265555775970376e-6
allele num: 120984
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1303+9T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-12249T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1237+9T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1342+9T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.184+9T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1312+9T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1312+9T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1125+28735T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1303+9T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1125+28735T>C
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

12-23728587-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23728587
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23728587
    reference: chr 12
allele count: 1
allele frequency: 8.265009256810368e-6
allele num: 120992
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1125+28734C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1125+28734C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1303+8C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-12250C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1237+8C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1303+8C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1312+8C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1342+8C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1312+8C>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.184+8C>G
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1342+8C>G
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

12-23728597-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23728597
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23728597
    reference: chr 12
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1310T>C
  hgvsp: ENSP00000443520.1:p.Ile437Thr
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.182T>C
  hgvsp: ENSP00000379328.2:p.Ile61Thr
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1235T>C
  hgvsp: ENSP00000439832.1:p.Ile412Thr
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1125+28724T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1301T>C
  hgvsp: ENSP00000308927.1:p.Ile434Thr
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1310T>C
  hgvsp: ENSP00000356174.3:p.Ile437Thr
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1340T>C
  hgvsp: ENSP00000398273.2:p.Ile447Thr
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000542241
  gene symbol: SOX5
  hgvsc: ENST00000542241.1:n.372T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1301T>C
  hgvsp: ENSP00000437487.1:p.Ile434Thr
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-12260T>C
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1125+28724T>C
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile447Thr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

12-23728599-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23728599
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23728599
    reference: chr 12
allele count: 1
allele frequency: 8.253821519363466e-6
allele num: 121156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1299A>G
  hgvsp: ENST00000309359.1:c.1299A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-12262A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1233A>G
  hgvsp: ENST00000537393.1:c.1233A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1308A>G
  hgvsp: ENST00000545921.1:c.1308A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1338A>G
  hgvsp: ENST00000451604.2:c.1338A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.180A>G
  hgvsp: ENST00000396007.2:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1125+28722A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1308A>G
  hgvsp: ENST00000367206.3:c.1308A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1299A>G
  hgvsp: ENST00000546136.1:c.1299A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1125+28722A>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000542241
  gene symbol: SOX5
  hgvsc: ENST00000542241.1:n.370A>G
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr446Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

12-23728618-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23728618
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23728618
    reference: chr 12
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1280C>T
  hgvsp: ENSP00000437487.1:p.Pro427Leu
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000542241
  gene symbol: SOX5
  hgvsc: ENST00000542241.1:n.351C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.161C>T
  hgvsp: ENSP00000379328.2:p.Pro54Leu
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1289C>T
  hgvsp: ENSP00000356174.3:p.Pro430Leu
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1214C>T
  hgvsp: ENSP00000439832.1:p.Pro405Leu
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1289C>T
  hgvsp: ENSP00000443520.1:p.Pro430Leu
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1319C>T
  hgvsp: ENSP00000398273.2:p.Pro440Leu
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-12281C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1280C>T
  hgvsp: ENSP00000308927.1:p.Pro427Leu
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1125+28703C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1125+28703C>T
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13861
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro440Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum

12-23728629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23728629
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23728629
    reference: chr 12
allele count: 3
allele frequency: 2.473941153186436e-5
allele num: 121264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1278G>A
  hgvsp: ENST00000545921.1:c.1278G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1278G>A
  hgvsp: ENST00000367206.3:c.1278G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.150G>A
  hgvsp: ENST00000396007.2:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1269G>A
  hgvsp: ENST00000309359.1:c.1269G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1269G>A
  hgvsp: ENST00000546136.1:c.1269G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1308G>A
  hgvsp: ENST00000451604.2:c.1308G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1125+28692G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1125+28692G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-12292G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000542241
  gene symbol: SOX5
  hgvsc: ENST00000542241.1:n.340G>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1203G>A
  hgvsp: ENST00000537393.1:c.1203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala436Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

12-23728630-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23728630
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23728630
    reference: chr 12
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1307C>T
  hgvsp: ENSP00000398273.2:p.Ala436Val
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1202C>T
  hgvsp: ENSP00000439832.1:p.Ala401Val
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1125+28691C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-12293C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1268C>T
  hgvsp: ENSP00000437487.1:p.Ala423Val
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1277C>T
  hgvsp: ENSP00000356174.3:p.Ala426Val
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.149C>T
  hgvsp: ENSP00000379328.2:p.Ala50Val
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1268C>T
  hgvsp: ENSP00000308927.1:p.Ala423Val
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000542241
  gene symbol: SOX5
  hgvsc: ENST00000542241.1:n.339C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1277C>T
  hgvsp: ENSP00000443520.1:p.Ala426Val
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1125+28691C>T
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala436Val
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/12-23728643-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23728643
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23728643
    reference: chr 12
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1125+28678T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1255T>G
  hgvsp: ENSP00000308927.1:p.Ser419Ala
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1125+28678T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1264T>G
  hgvsp: ENSP00000356174.3:p.Ser422Ala
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1264T>G
  hgvsp: ENSP00000443520.1:p.Ser422Ala
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1255T>G
  hgvsp: ENSP00000437487.1:p.Ser419Ala
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000542241
  gene symbol: SOX5
  hgvsc: ENST00000542241.1:n.326T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1189T>G
  hgvsp: ENSP00000439832.1:p.Ser397Ala
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1294T>G
  hgvsp: ENSP00000398273.2:p.Ser432Ala
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-12306T>G
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.136T>G
  hgvsp: ENSP00000379328.2:p.Ser46Ala
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser432Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-23728652-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23728652
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23728652
    reference: chr 12
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1255C>A
  hgvsp: ENSP00000443520.1:p.Leu419Ile
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1285C>A
  hgvsp: ENSP00000398273.2:p.Leu429Ile
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1246C>A
  hgvsp: ENSP00000437487.1:p.Leu416Ile
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1255C>A
  hgvsp: ENSP00000356174.3:p.Leu419Ile
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.127C>A
  hgvsp: ENSP00000379328.2:p.Leu43Ile
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-12315C>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1180C>A
  hgvsp: ENSP00000439832.1:p.Leu394Ile
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1125+28669C>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000542241
  gene symbol: SOX5
  hgvsc: ENST00000542241.1:n.317C>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1125+28669C>A
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1246C>A
  hgvsp: ENSP00000308927.1:p.Leu416Ile
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu429Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

12-23728656-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23728656
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 23728656
    reference: chr 12
allele count: 10
allele frequency: 8.251505899826719e-5
allele num: 121190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000535530
  gene symbol: SOX5
  hgvsc: ENST00000535530.1:n.489-12319C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000398273
  ensembl transcript: ENST00000451604
  gene symbol: SOX5
  hgvsc: ENST00000451604.2:c.1281C>T
  hgvsp: ENST00000451604.2:c.1281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000437487
  ensembl transcript: ENST00000546136
  gene symbol: SOX5
  hgvsc: ENST00000546136.1:c.1242C>T
  hgvsp: ENST00000546136.1:c.1242C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134532
  ensembl transcript: ENST00000542241
  gene symbol: SOX5
  hgvsc: ENST00000542241.1:n.313C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000308927
  ensembl transcript: ENST00000309359
  gene symbol: SOX5
  hgvsc: ENST00000309359.1:c.1242C>T
  hgvsp: ENST00000309359.1:c.1242C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000439832
  ensembl transcript: ENST00000537393
  gene symbol: SOX5
  hgvsc: ENST00000537393.1:c.1176C>T
  hgvsp: ENST00000537393.1:c.1176C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000441973
  ensembl transcript: ENST00000541536
  gene symbol: SOX5
  hgvsc: ENST00000541536.1:c.1125+28665C>T
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000379328
  ensembl transcript: ENST00000396007
  gene symbol: SOX5
  hgvsc: ENST00000396007.2:c.123C>T
  hgvsp: ENST00000396007.2:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000443520
  ensembl transcript: ENST00000545921
  gene symbol: SOX5
  hgvsc: ENST00000545921.1:c.1251C>T
  hgvsp: ENST00000545921.1:c.1251C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000356174
  ensembl transcript: ENST00000367206
  gene symbol: SOX5
  hgvsc: ENST00000367206.3:c.1251C>T
  hgvsp: ENST00000367206.3:c.1251C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134532
  ensembl protein: ENSP00000370788
  ensembl transcript: ENST00000381381
  gene symbol: SOX5
  hgvsc: ENST00000381381.2:c.1125+28665C>T
  variant of: http://identifiers.org/hgnc/11201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7410
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Gly427Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS

GenotypeQuality
all individuals: 257
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1673
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2087
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1929
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3309
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3613
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3957
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1767
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3040
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 15
allele frequency: 1.305255830142708e-3
allele num: 11492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 94
allele frequency: 1.439465866282809e-3
allele num: 65302
num of homozygotes: 1

African
type: Population
allele count: 3
allele frequency: 3.02907915993538e-4
allele num: 9904
num of homozygotes: 0

South Asian
type: Population
allele count: 24
allele frequency: 1.567193417787645e-3
allele num: 15314
num of homozygotes: 1

Other
type: Population
allele count: 2
allele frequency: 2.298850574712644e-3
allele num: 870
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.529221e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.088e0

VQSLOD
type: SiteQuality
SIO_000300: 6.21e0

QD
type: SiteQuality
SIO_000300: 1.567e1

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

GenotypeQuality
all individuals: 3447
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8560
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 28511
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1560
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2570
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.500583430571762e-4
allele num: 8570
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.234e0

QD
type: SiteQuality
SIO_000300: 1.415e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 1.972542e6

VQSLOD
type: SiteQuality
SIO_000300: 6.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.11e-1

GenotypeQuality
all individuals: 2580
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1684
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7256
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2523
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1521
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3461
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.749169144656288e-4
allele num: 11434
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65706
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14668
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

DP
type: SiteQuality
SIO_000300: 1.976836e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.941e0

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

QD
type: SiteQuality
SIO_000300: 1.567e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

GenotypeQuality
all individuals: 242
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 202
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3461
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1521
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8569
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1106
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28740
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14668
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.745845723281441e-5
allele num: 11434
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65706
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.941e0

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.567e1

DP
type: SiteQuality
SIO_000300: 1.976836e6

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2590
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2530
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3475
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8568
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29329
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 4.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14766
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520265134239411e-5
allele num: 65778
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 5.951e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: -4.795e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.97e-1

DP
type: SiteQuality
SIO_000300: 1.979999e6

QD
type: SiteQuality
SIO_000300: 7.54e0

MQRankSum
type: SiteQuality
SIO_000300: -5.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.81e-1

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1706
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8578
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29762
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3461
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518879674352198e-5
allele num: 65838
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 3.126e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.638e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-1

DP
type: SiteQuality
SIO_000300: 1.985835e6

FS
type: SiteQuality
SIO_000300: 1.606e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.43e-1

GenotypeQuality
all individuals: 431
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29758
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3442
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8558
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1353
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2508
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
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: 10342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65780
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.745817593092283e-5
allele num: 14824
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.987808e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.227e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.199e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2576
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8559
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 177
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3469
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2513
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7407
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512264464809606e-5
allele num: 66126
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15530
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.757e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

VQSLOD
type: SiteQuality
SIO_000300: 3.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

QD
type: SiteQuality
SIO_000300: 9.49e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: -2.02e-1

DP
type: SiteQuality
SIO_000300: 2.005313e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2522
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3461
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32485
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2575
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7475
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.237776952593143e-4
allele num: 16158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

African
type: Population
allele count: 11
allele frequency: 1.059118043520123e-3
allele num: 10386
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: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66380
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

QD
type: SiteQuality
SIO_000300: 1.182e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.554e0

DP
type: SiteQuality
SIO_000300: 2.021083e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.47e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8556
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2572
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32978
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7488
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.079766536964981e-5
allele num: 16448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
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: 904
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e0

DP
type: SiteQuality
SIO_000300: 2.027191e6

QD
type: SiteQuality
SIO_000300: 1.252e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.055e0

VQSLOD
type: SiteQuality
SIO_000300: -4.156e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3465
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33056
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2533
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2572
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8556
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
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: 2.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

DP
type: SiteQuality
SIO_000300: 2.028087e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.153e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

VQSLOD
type: SiteQuality
SIO_000300: -4.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.412e1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

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

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2530
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33086
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2574
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3466
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7498
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8557
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
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: 1.501997656883655e-5
allele num: 66578
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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
type: SiteQuality
SIO_000300: 7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 9.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e0

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

DP
type: SiteQuality
SIO_000300: 2.028628e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.1e-1

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

GenotypeQuality
all individuals: 1685
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33107
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2528
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 107
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3470
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7497
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8556
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2573
bin: 8.25e1
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: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
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: 908
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e0

DP
type: SiteQuality
SIO_000300: 2.028911e6

MQRankSum
type: SiteQuality
SIO_000300: -8.37e-1

FS
type: SiteQuality
SIO_000300: 2.894e0

VQSLOD
type: SiteQuality
SIO_000300: 7.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3470
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2571
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33112
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8557
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1686
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7496
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.458412588621823e-4
allele num: 11566
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: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003003003003003e-5
allele num: 66600
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

FS
type: SiteQuality
SIO_000300: 2.448e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.16e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.27e-1

DP
type: SiteQuality
SIO_000300: 2.029549e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

GenotypeQuality
all individuals: 1687
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8553
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33152
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3469
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2572
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7500
bin: 6.75e1
variant carriers: 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: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.029384e6

FS
type: SiteQuality
SIO_000300: 4.975e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

QD
type: SiteQuality
SIO_000300: 1.084e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

GenotypeQuality
all individuals: 7498
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 129
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3466
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2569
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2518
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33105
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 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: 8638
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: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e-1

DP
type: SiteQuality
SIO_000300: 2.029097e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: -1.322e0

QD
type: SiteQuality
SIO_000300: 1.112e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.146e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.285e0

GenotypeQuality
all individuals: 2559
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31061
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3427
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7255
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2476
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.619172341540073e-4
allele num: 11454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 4.345127250155183e-4
allele num: 16110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.81504673745349e-4
allele num: 66114
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.034e1

QD
type: SiteQuality
SIO_000300: 1.125e1

FS
type: SiteQuality
SIO_000300: 1.826e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 2.000956e6

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

GenotypeQuality
all individuals: 468
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7191
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3421
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8549
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2557
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29991
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65874
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15988
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.984025559105431e-5
allele num: 10016
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.372e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.91e-1

DP
type: SiteQuality
SIO_000300: 1.985722e6

MQRankSum
type: SiteQuality
SIO_000300: 3.81e-1

MQ
type: SiteQuality
SIO_000300: 5.733e1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 1.575e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.435e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3420
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2554
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7134
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29399
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2455
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1679
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15938
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.001401962747847e-4
allele num: 9986
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65784
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 2.649e0

QD
type: SiteQuality
SIO_000300: 1.131e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-1

DP
type: SiteQuality
SIO_000300: 1.979701e6

MQ
type: SiteQuality
SIO_000300: 5.908e1

VQSLOD
type: SiteQuality
SIO_000300: -3.74e-1

GenotypeQuality
all individuals: 3347
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2412
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4361
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2326
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8542
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6257
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.412722842118764e-5
allele num: 15594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64888
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 1.877449e6

QD
type: SiteQuality
SIO_000300: 1.228e1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e-1

GenotypeQuality
all individuals: 2215
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5449
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3873
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1675
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8536
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 362
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3710
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2507
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15212
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11214
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554243083618278e-5
allele num: 64340
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: -1.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.546e0

DP
type: SiteQuality
SIO_000300: 1.832679e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.47e0

VQSLOD
type: SiteQuality
SIO_000300: -2.775e-1

QD
type: SiteQuality
SIO_000300: 4.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 4.051e1

GenotypeQuality
all individuals: 112
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2407
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3682
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4245
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11012
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1865
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1675
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2353
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4331
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3837
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4897
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564210855623338e-5
allele num: 63930
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

DP
type: SiteQuality
SIO_000300: 1.813882e6

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.61e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
all individuals: 1004
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4395
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33709
bin: 9.75e1
variant carriers: 39

GenotypeQuality
all individuals: 3143
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 2.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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: 27
allele frequency: 2.617801047120419e-3
allele num: 10314
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.463803255975061e-4
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.211460415530922e-4
allele num: 66036
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.045e0

QD
type: SiteQuality
SIO_000300: 1.567e1

DP
type: SiteQuality
SIO_000300: 2.654067e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.62e0

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

GenotypeQuality
all individuals: 3387
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2751
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3245
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4863
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15530
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: 896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514554872323024e-5
allele num: 66026
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

MQ
type: SiteQuality
SIO_000300: 5.276e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.367e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 2.656649e6

GenotypeQuality
all individuals: 1908
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2815
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3152
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3253
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33718
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513683700653911e-5
allele num: 66064
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.532e1

DP
type: SiteQuality
SIO_000300: 2.660588e6

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3302
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8643
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1745
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3438
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2982
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.286145335680161e-5
allele num: 15908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66254
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

QD
type: SiteQuality
SIO_000300: 1.922e1

DP
type: SiteQuality
SIO_000300: 2.69089e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.299e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

GenotypeQuality
all individuals: 8578
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2992
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3440
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1926
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3305
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33735
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.026634382566586e-4
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66268
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.08e0

FS
type: SiteQuality
SIO_000300: 6.508e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.157e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: -2.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.487e1

DP
type: SiteQuality
SIO_000300: 2.692118e6

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3208
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8897
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 0
allele frequency: 0.0e0
allele num: 15974
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.282e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.55e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.73e-1

DP
type: SiteQuality
SIO_000300: 2.694776e6

MQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

QD
type: SiteQuality
SIO_000300: 1.374e1

VQSLOD
type: SiteQuality
SIO_000300: -2.896e-1

FS
type: SiteQuality
SIO_000300: 1.353e0

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

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9106
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3039
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 398
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3309
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3441
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3200
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33734
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506614035616356e-5
allele num: 66374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16088
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.02e-2

DP
type: SiteQuality
SIO_000300: 2.698818e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 5.590000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.339e0

MQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.254e1

GenotypeQuality
all individuals: 3208
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33735
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 144
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3316
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3441
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1758
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.205013651030033e-5
allele num: 16116
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66396
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e0

VQSLOD
type: SiteQuality
SIO_000300: -2.331e0

DP
type: SiteQuality
SIO_000300: 2.699528e6

MQ
type: SiteQuality
SIO_000300: 5.895e1

MQRankSum
type: SiteQuality
SIO_000300: -1.904e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.64e-1

QD
type: SiteQuality
SIO_000300: 1.824e1

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3441
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33737
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3203
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1756
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3050
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.153846153846154e-5
allele num: 16250
num of homozygotes: 0

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

African
type: Population
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: 6612
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.831e-1

FS
type: SiteQuality
SIO_000300: 1.168e0

DP
type: SiteQuality
SIO_000300: 2.703616e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.04e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.282e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.368e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-1

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1760
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 206
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3316
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3214
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3073
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9712
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33738
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3444
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.265e0

DP
type: SiteQuality
SIO_000300: 2.706044e6

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e-1

FS
type: SiteQuality
SIO_000300: 6.827e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.264e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3099
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9948
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33741
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3442
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3221
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
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: 16464
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.101e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.322e0

FS
type: SiteQuality
SIO_000300: 2.019e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.898e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e0

DP
type: SiteQuality
SIO_000300: 2.709766e6

QD
type: SiteQuality
SIO_000300: 1.085e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

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

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3099
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3444
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3316
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3219
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33738
bin: 9.75e1
variant carriers: 3

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

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

GenotypeQuality
all individuals: 89
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.97e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.996e0

FS
type: SiteQuality
SIO_000300: 6.429e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

QD
type: SiteQuality
SIO_000300: 1.229e1

DP
type: SiteQuality
SIO_000300: 2.710825e6

GenotypeQuality
all individuals: 1767
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10069
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3444
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3219
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33739
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3316
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3125
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.099e1

DP
type: SiteQuality
SIO_000300: 2.711671e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.818e0

VQSLOD
type: SiteQuality
SIO_000300: 5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

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

GenotypeQuality
all individuals: 1766
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3124
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3218
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3444
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.423e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

FS
type: SiteQuality
SIO_000300: 1.7419e1

MQ
type: SiteQuality
SIO_000300: 5.988e1

VQSLOD
type: SiteQuality
SIO_000300: -2.38e0

DP
type: SiteQuality
SIO_000300: 2.712053e6

QD
type: SiteQuality
SIO_000300: 1.549e1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 33742
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3316
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3217
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10091
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3443
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3127
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.497375918428549e-5
allele num: 66690
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.712378e6

VQSLOD
type: SiteQuality
SIO_000300: -7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 1.757e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.914e1

MQRankSum
type: SiteQuality
SIO_000300: -1.08e0

QD
type: SiteQuality
SIO_000300: 1.226e1

GenotypeQuality
all individuals: 3129
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1767
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3443
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33740
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10099
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3316
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3219
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
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: 10406
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.2e0

MQRankSum
type: SiteQuality
SIO_000300: -4.39e-1

DP
type: SiteQuality
SIO_000300: 2.71234e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

FS
type: SiteQuality
SIO_000300: 5.046e0

QD
type: SiteQuality
SIO_000300: 4.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.725e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e0

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

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3221
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3131
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 33739
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10107
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3316
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3443
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.034000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -7.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.141e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.076e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.713e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 2.712591e6

GenotypeQuality
all individuals: 3220
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10107
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3130
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1767
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33740
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3442
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.815e0

FS
type: SiteQuality
SIO_000300: 2.653e0

DP
type: SiteQuality
SIO_000300: 2.712654e6

MQRankSum
type: SiteQuality
SIO_000300: -6.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.99e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.5e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.824e0

GenotypeQuality
all individuals: 18
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3443
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3125
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3221
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33741
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1767
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10102
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: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.898e1

VQSLOD
type: SiteQuality
SIO_000300: -3.656e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.096e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

DP
type: SiteQuality
SIO_000300: 2.712939e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

QD
type: SiteQuality
SIO_000300: 1.062e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10096
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3314
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3444
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3127
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1931
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33741
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3221
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 7.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.751e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.02e-1

QD
type: SiteQuality
SIO_000300: 6.84e0

DP
type: SiteQuality
SIO_000300: 2.712893e6

FS
type: SiteQuality
SIO_000300: 5.016e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

GenotypeQuality
all individuals: 33745
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10099
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3441
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3127
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3218
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3314
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.798776831754407e-4
allele num: 66712
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

DP
type: SiteQuality
SIO_000300: 2.713854e6

QD
type: SiteQuality
SIO_000300: 1.187e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

FS
type: SiteQuality
SIO_000300: 1.116e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3216
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3441
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3312
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10106
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3130
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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: 8642
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.436e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.899e0

VQSLOD
type: SiteQuality
SIO_000300: -1.042e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

FS
type: SiteQuality
SIO_000300: 1.108e0

MQ
type: SiteQuality
SIO_000300: 5.9e1

QD
type: SiteQuality
SIO_000300: 1.289e1

DP
type: SiteQuality
SIO_000300: 2.713254e6

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

GenotypeQuality
all individuals: 58
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3312
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3127
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1762
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33742
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3441
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3216
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10064
bin: 6.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.39e-1

QD
type: SiteQuality
SIO_000300: 1.23e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e0

FS
type: SiteQuality
SIO_000300: 1.501e0

MQRankSum
type: SiteQuality
SIO_000300: 8.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.43e-1

DP
type: SiteQuality
SIO_000300: 2.712703e6

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3309
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1762
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3215
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1932
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33744
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3122
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3442
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.893e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.236e0

DP
type: SiteQuality
SIO_000300: 2.712489e6

QD
type: SiteQuality
SIO_000300: 1.307e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.912e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.73e0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3051
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33743
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3204
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3303
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1742
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 10
allele frequency: 8.637070305752289e-4
allele num: 11578
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.284e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-1

DP
type: SiteQuality
SIO_000300: 2.704537e6

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

FS
type: SiteQuality
SIO_000300: 2.147e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.24e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.77e0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2998
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8603
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3195
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3304
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3438
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1742
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33741
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66520
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.156877231867996e-5
allele num: 16242
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.698696e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.27e0

MQRankSum
type: SiteQuality
SIO_000300: -2.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.405e1

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

GenotypeQuality
all individuals: 1727
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3185
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33740
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2943
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7701
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3438
bin: 9.25e1
variant carriers: 0

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

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

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

European (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: 66478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.167509559639817e-5
allele num: 16214
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.9994e1

MQRankSum
type: SiteQuality
SIO_000300: -1.278e0

DP
type: SiteQuality
SIO_000300: 2.689912e6

QD
type: SiteQuality
SIO_000300: 1.28e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.936e0

VQSLOD
type: SiteQuality
SIO_000300: -8.968e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

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

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2946
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3187
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7675
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1725
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3438
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33740
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 339
bin: 3.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.51222813825467e-5
allele num: 66486
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

FS
type: SiteQuality
SIO_000300: 1.573e0

MQRankSum
type: SiteQuality
SIO_000300: -6.72e-1

QD
type: SiteQuality
SIO_000300: 1.471e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

DP
type: SiteQuality
SIO_000300: 2.688883e6

GenotypeQuality
all individuals: 167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3439
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1720
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3302
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3179
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6893
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.188884762965714e-5
allele num: 16158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.254e0

DP
type: SiteQuality
SIO_000300: 2.683434e6

QD
type: SiteQuality
SIO_000300: 1.541e1

MQRankSum
type: SiteQuality
SIO_000300: -6.18e-1

FS
type: SiteQuality
SIO_000300: 3.064e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 3.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

GenotypeQuality
all individuals: 2826
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1182
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3286
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3171
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1922
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1705
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3431
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5701
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33782
bin: 9.75e1
variant carriers: 121

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.204238921001927e-4
allele num: 66432
num of homozygotes: 0

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

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

African
type: Population
allele count: 111
allele frequency: 1.066897347174164e-2
allele num: 10404
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16076
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

QD
type: SiteQuality
SIO_000300: 1.32e1

DP
type: SiteQuality
SIO_000300: 2.679594e6

FS
type: SiteQuality
SIO_000300: 9.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.927e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.24e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 597
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2829
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1702
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33750
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3289
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3432
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3172
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 3.844675124951942e-4
allele num: 10404
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66412
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.274e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.102e0

DP
type: SiteQuality
SIO_000300: 2.678522e6

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

QD
type: SiteQuality
SIO_000300: 1.415e1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

GenotypeQuality
all individuals: 108
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2790
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3172
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5201
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3283
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3431
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33751
bin: 9.75e1
variant carriers: 1

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: 66418
num of homozygotes: 0

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

African
type: Population
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: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.246096189881324e-5
allele num: 16010
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.586e0

QD
type: SiteQuality
SIO_000300: 1.587e1

DP
type: SiteQuality
SIO_000300: 2.677007e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.82e-1

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3428
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1691
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4449
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33752
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3164
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3284
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 8.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.92e0

DP
type: SiteQuality
SIO_000300: 2.677025e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.532e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.355e0

VQSLOD
type: SiteQuality
SIO_000300: -3.314e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.555e0

GenotypeQuality
all individuals: 704
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4255
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3159
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2693
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33752
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1687
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.924187030979411e-4
allele num: 10394
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507477086348288e-5
allele num: 66336
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 1.388e1

DP
type: SiteQuality
SIO_000300: 2.677376e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.55e-1

FS
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4865
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9677
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 974
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1705
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3363
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1500
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3700
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8974
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18835
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 2.25e1
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: 1
allele frequency: 1.511350240304688e-5
allele num: 66166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.987386e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.147e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.876e0

QD
type: SiteQuality
SIO_000300: 9.5e0

GenotypeQuality
all individuals: 294
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3658
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3326
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1691
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9168
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9673
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2488
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4780
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.201935003721161e-5
allele num: 16124
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 8.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.453e0

VQSLOD
type: SiteQuality
SIO_000300: -1.129e0

DP
type: SiteQuality
SIO_000300: 2.011905e6

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.73e-1

FS
type: SiteQuality
SIO_000300: 8.401999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.932e1

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

GenotypeQuality
all individuals: 4798
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9343
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2493
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3671
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9675
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
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: 11536
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 4
allele frequency: 4.639294827186268e-4
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.303e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.65e-1

FS
type: SiteQuality
SIO_000300: 2.065e0

MQRankSum
type: SiteQuality
SIO_000300: -5.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.282e0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 2.028494e6

GenotypeQuality
all individuals: 25179
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1695
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4802
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3672
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9675
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 9378
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
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: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.035495e6

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.246e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.182e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.953e0

FS
type: SiteQuality
SIO_000300: 2.0633e1

QD
type: SiteQuality
SIO_000300: 1.096e1

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4801
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3671
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9676
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2495
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25181
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9378
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3370
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
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: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502900598154438e-5
allele num: 66538
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: 11552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

FS
type: SiteQuality
SIO_000300: 1.1325e1

DP
type: SiteQuality
SIO_000300: 2.0356e6

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.222e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.317e1

GenotypeDepth
all individuals: 307
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 435
bin: 6.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 153
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9384
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25353
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4806
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3371
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3670
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9675
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2495
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 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: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.333e1

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

FS
type: SiteQuality
SIO_000300: 2.005e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.07e0

DP
type: SiteQuality
SIO_000300: 2.037747e6

GenotypeDepth
all individuals: 603
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3370
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1693
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25374
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3670
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4808
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9385
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9675
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2493
bin: 9.25e1
variant carriers: 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: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.706e0

VQSLOD
type: SiteQuality
SIO_000300: -3.613e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.698e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.923e1

DP
type: SiteQuality
SIO_000300: 2.038104e6

QD
type: SiteQuality
SIO_000300: 1.284e1

GenotypeDepth
all individuals: 307
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25468
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9393
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3372
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4809
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3670
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9675
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1693
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

African
type: Population
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: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.346e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

QD
type: SiteQuality
SIO_000300: 2.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

DP
type: SiteQuality
SIO_000300: 2.039384e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.265e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 81
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1692
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4808
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9392
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3670
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3370
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9675
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 25470
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.199e1

FS
type: SiteQuality
SIO_000300: 2.696e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 2.039868e6

GenotypeDepth
all individuals: 307
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3669
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3370
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9394
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9674
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1692
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25475
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4811
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 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: 908
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
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: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.039711e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.405e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.273e1

GenotypeDepth
all individuals: 603
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9672
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3370
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 92
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1692
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3670
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25440
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4812
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9396
bin: 6.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 2.543e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 2.03966e6

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

GenotypeDepth
all individuals: 307
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9392
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2494
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4810
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25400
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3372
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9672
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1692
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3667
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 8648
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.039419e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.9e1

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.928e0

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.77e-1

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3667
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 9680
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 25349
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4807
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9390
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1692
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3371
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.097560975609756e-4
allele num: 16400
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.97e0

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

DP
type: SiteQuality
SIO_000300: 2.039794e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

FS
type: SiteQuality
SIO_000300: 1.74e0