8-10677699-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677699
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677699
    reference: chr 8
allele count: 75
allele frequency: 6.642693922377907e-4
allele num: 112906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5963T>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*77+4T>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.471+4T>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.501+4T>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5963T>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5963T>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5963T>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5963T>A
  variant of: http://identifiers.org/hgnc/18196
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34707
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8401
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6899
  bin: 9.75e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
hgvs: c.471+4T>A
num of homozygotes: 1
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP

8-10677700-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677700
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677700
    reference: chr 8
allele count: 1
allele frequency: 8.840638647735912e-6
allele num: 113114
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*77+3A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5962A>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.501+3A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5962A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5962A>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5962A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5962A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.471+3A>G
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
hgvs: c.471+3A>G
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

8-10677705-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677705
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677705
    reference: chr 8
allele count: 7
allele frequency: 6.141536085911316e-5
allele num: 113978
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5957G>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5957G>C
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.469G>C
  hgvsp: ENSP00000318966.3:p.Glu157Gln
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*75G>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.499G>C
  hgvsp: ENSP00000428728.1:p.Glu167Gln
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5957G>C
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5957G>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5957G>C
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu157Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

8-10677705-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677705
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677705
    reference: chr 8
allele count: 1
allele frequency: 8.773622979873309e-6
allele num: 113978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*75G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5957G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5957G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5957G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.499G>A
  hgvsp: ENSP00000428728.1:p.Glu167Lys
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.469G>A
  hgvsp: ENSP00000318966.3:p.Glu157Lys
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5957G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5957G>A
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35212
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu157Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

8-10677706-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677706
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677706
    reference: chr 8
allele count: 3
allele frequency: 2.625360987135731e-5
allele num: 114270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.498C>T
  hgvsp: ENST00000524114.1:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5956C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5956C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5956C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5956C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.468C>T
  hgvsp: ENST00000314787.3:c.468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5956C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*74C>T
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro156Pro
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

8-10677706-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677706
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677706
    reference: chr 8
allele count: 12
allele frequency: 1.050144394854292e-4
allele num: 114270
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5956C>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*74C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5956C>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.498C>G
  hgvsp: ENST00000524114.1:c.498C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.468C>G
  hgvsp: ENST00000314787.3:c.468C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5956C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5956C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5956C>G
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9137
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35349
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6839
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro156Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-10677708-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677708
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677708
    reference: chr 8
allele count: 1
allele frequency: 8.721133049605804e-6
allele num: 114664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*72C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5954C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5954C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5954C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.496C>T
  hgvsp: ENSP00000428728.1:p.Pro166Ser
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5954C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5954C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.466C>T
  hgvsp: ENSP00000318966.3:p.Pro156Ser
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2857
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro156Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

8-10677710-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677710
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677710
    reference: chr 8
allele count: 8
allele frequency: 6.962091412260243e-5
allele num: 114908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5952C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.494C>T
  hgvsp: ENSP00000428728.1:p.Thr165Ile
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5952C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.464C>T
  hgvsp: ENSP00000318966.3:p.Thr155Ile
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5952C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5952C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*70C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5952C>T
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9382
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr155Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

8-10677720-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677720
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677720
    reference: chr 8
allele count: 1
allele frequency: 8.649471517290293e-6
allele num: 115614
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.454A>T
  hgvsp: ENSP00000318966.3:p.Ser152Cys
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.484A>T
  hgvsp: ENSP00000428728.1:p.Ser162Cys
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*60A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5942A>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5942A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5942A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5942A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5942A>T
  variant of: http://identifiers.org/hgnc/18196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35966
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6828
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser152Cys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

8-10677722-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677722
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677722
    reference: chr 8
allele count: 3
allele frequency: 2.591971799346823e-5
allele num: 115742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.482A>G
  hgvsp: ENSP00000428728.1:p.Gln161Arg
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*58A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5940A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.452A>G
  hgvsp: ENSP00000318966.3:p.Gln151Arg
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5940A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5940A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5940A>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5940A>G
  variant of: http://identifiers.org/hgnc/18196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9876
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln151Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

8-10677726-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677726
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677726
    reference: chr 8
allele count: 2
allele frequency: 1.726102116201194e-5
allele num: 115868
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5936A>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5936A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.478A>G
  hgvsp: ENSP00000428728.1:p.Arg160Gly
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.448A>G
  hgvsp: ENSP00000318966.3:p.Arg150Gly
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5936A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5936A>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*54A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5936A>G
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg150Gly
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

8-10677732-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677732
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677732
    reference: chr 8
allele count: 1
allele frequency: 8.630957518427095e-6
allele num: 115862
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5930G>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5930G>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.472G>C
  hgvsp: ENSP00000428728.1:p.Gly158Arg
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*48G>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5930G>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.442G>C
  hgvsp: ENSP00000318966.3:p.Gly148Arg
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5930G>C
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5930G>C
  variant of: http://identifiers.org/hgnc/18196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly148Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

8-10677741-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677741
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677741
    reference: chr 8
allele count: 1
allele frequency: 8.692175303791527e-6
allele num: 115046
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5921T>C
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5921T>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.463T>C
  hgvsp: ENSP00000428728.1:p.Cys155Arg
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5921T>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5921T>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*39T>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.433T>C
  hgvsp: ENSP00000318966.3:p.Cys145Arg
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5921T>C
  variant of: http://identifiers.org/hgnc/18196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10708
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6830
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Cys145Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

8-10677741-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677741
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677741
    reference: chr 8
allele count: 4
allele frequency: 3.476870121516611e-5
allele num: 115046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5921T>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5921T>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.433T>A
  hgvsp: ENSP00000318966.3:p.Cys145Ser
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.463T>A
  hgvsp: ENSP00000428728.1:p.Cys155Ser
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*39T>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5921T>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5921T>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5921T>A
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34375
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys145Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

8-10677743-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677743
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677743
    reference: chr 8
allele count: 1
allele frequency: 8.725546655497967e-6
allele num: 114606
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5919A>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5919A>C
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.461A>C
  hgvsp: ENSP00000428728.1:p.Asp154Ala
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.431A>C
  hgvsp: ENSP00000318966.3:p.Asp144Ala
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5919A>C
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5919A>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5919A>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*37A>C
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40894
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp144Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

8-10677747-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677747
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677747
    reference: chr 8
allele count: 2
allele frequency: 1.758334505556337e-5
allele num: 113744
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5915C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5915C>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.427C>G
  hgvsp: ENSP00000318966.3:p.Leu143Val
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*33C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5915C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.457C>G
  hgvsp: ENSP00000428728.1:p.Leu153Val
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5915C>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5915C>G
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu143Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

8-10677752-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677752
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677752
    reference: chr 8
allele count: 5
allele frequency: 4.441207297791832e-5
allele num: 112582
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.422C>T
  hgvsp: ENSP00000318966.3:p.Thr141Ile
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5910C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5910C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5910C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5910C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.452C>T
  hgvsp: ENSP00000428728.1:p.Thr151Ile
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5910C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*28C>T
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31591
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10551
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5900
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr141Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

8-10677761-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677761
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677761
    reference: chr 8
allele count: 14
allele frequency: 1.26806999746386e-4
allele num: 110404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.443G>A
  hgvsp: ENSP00000428728.1:p.Arg148Gln
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5901G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.413G>A
  hgvsp: ENSP00000318966.3:p.Arg138Gln
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*19G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5901G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5901G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5901G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5901G>A
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10188
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29620
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg138Gln
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

8-10677762-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677762
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677762
    reference: chr 8
allele count: 2
allele frequency: 1.821792279244321e-5
allele num: 109782
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5900C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5900C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5900C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*18C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5900C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.442C>T
  hgvsp: ENSP00000428728.1:p.Arg148Trp
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.412C>T
  hgvsp: ENSP00000318966.3:p.Arg138Trp
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5900C>T
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10097
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29049
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35698
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg138Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/8-10677774-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677774
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677774
    reference: chr 8
allele count: 1
allele frequency: 9.586440937937382e-6
allele num: 104314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5888G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*6G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5888G>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5888G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5888G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.400G>T
  hgvsp: ENSP00000318966.3:p.Asp134Tyr
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.430G>T
  hgvsp: ENSP00000428728.1:p.Asp144Tyr
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5888G>T
  variant of: http://identifiers.org/hgnc/18196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12750
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6824
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp134Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

8-10677776-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677776
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677776
    reference: chr 8
allele count: 1
allele frequency: 9.669870617131143e-6
allele num: 103414
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*4A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.398A>T
  hgvsp: ENSP00000318966.3:p.Lys133Met
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5886A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5886A>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.428A>T
  hgvsp: ENSP00000428728.1:p.Lys143Met
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5886A>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5886A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5886A>T
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys133Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

8-10677777-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677777
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677777
    reference: chr 8
allele count: 2
allele frequency: 1.94265288678219e-5
allele num: 102952
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5885A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5885A>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5885A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.397A>G
  hgvsp: ENSP00000318966.3:p.Lys133Glu
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5885A>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.427A>G
  hgvsp: ENSP00000428728.1:p.Lys143Glu
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*3A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5885A>G
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6825
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys133Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

8-10677779-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677779
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677779
    reference: chr 8
allele count: 1
allele frequency: 9.846590125839422e-6
allele num: 101558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5883G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5883G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5883G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395G>A
  hgvsp: ENSP00000318966.3:p.Gly132Glu
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5883G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425G>A
  hgvsp: ENSP00000428728.1:p.Gly142Glu
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.*1G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5883G>A
  variant of: http://identifiers.org/hgnc/18196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21581
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14977
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly132Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

8-10677780-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677780
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677780
    reference: chr 8
allele count: 1
allele frequency: 9.852216748768473e-6
allele num: 101500
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-1G>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-1G>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5882G>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5882G>C
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5882G>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5882G>C
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.59G>C
  hgvsp: ENSP00000429346.1:p.Ter20TyrextTer44
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5882G>C
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7943
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 2.75e1
  variant carriers: 0
hgvs: c.395-1G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-10677788-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677788
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677788
    reference: chr 8
allele count: 2
allele frequency: 2.071551384832101e-5
allele num: 96546
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-9T>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-9T>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5874T>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5874T>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5874T>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.51T>G
  hgvsp: ENSP00000429346.1:p.Phe18Val
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5874T>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5874T>G
  variant of: http://identifiers.org/hgnc/30046
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19063
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe18Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

8-10677792-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677792
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677792
    reference: chr 8
allele count: 6832
allele frequency: 7.37271491161807e-2
allele num: 92666
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5870A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-13A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5870A>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5870A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5870A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-13A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5870A>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.47A>G
  hgvsp: ENST00000524061.1:c.47A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30046
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 2.75e1
  variant carriers: 838
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 9.75e1
  variant carriers: 1138
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 3.25e1
  variant carriers: 472
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 240
genotype depth: GenotypeDepth
  all individuals: 13962
  bin: 2.25e1
  variant carriers: 1247
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 13294
  bin: 7.5e0
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 1.75e1
  variant carriers: 1294
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 4.25e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 11568
  bin: 1.25e1
  variant carriers: 726
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.75e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 16826
  bin: 6.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 5.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 6.75e1
  variant carriers: 40
hgvs: p.Thr16Thr
num of homozygotes: 269
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

8-10677794-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677794
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677794
    reference: chr 8
allele count: 4
allele frequency: 4.51416318699921e-5
allele num: 88610
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5868A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5868A>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-15A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5868A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-15A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.45A>G
  hgvsp: ENSP00000429346.1:p.Thr16Ala
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5868A>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5868A>G
  variant of: http://identifiers.org/hgnc/30046
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7139
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12526
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6589
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18383
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr16Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

8-10677795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677795
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677795
    reference: chr 8
allele count: 1
allele frequency: 1.140589000159682e-5
allele num: 87674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-16C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.44C>T
  hgvsp: ENST00000524061.1:c.44C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5867C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5867C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5867C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5867C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-16C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5867C>T
  variant of: http://identifiers.org/hgnc/18196
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12461
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6587
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile15Ile
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

8-10677797-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677797
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677797
    reference: chr 8
allele count: 1
allele frequency: 1.175226231049477e-5
allele num: 85090
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-18A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-18A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5865A>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5865A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.42A>T
  hgvsp: ENSP00000429346.1:p.Ile15Phe
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5865A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5865A>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5865A>T
  variant of: http://identifiers.org/hgnc/30046
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6399
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10832
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile15Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

8-10677801-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677801
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677801
    reference: chr 8
allele count: 1
allele frequency: 1.213297743266198e-5
allele num: 82420
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5861A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-22A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5861A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-22A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5861A>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5861A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5861A>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.38A>T
  hgvsp: ENSP00000429346.1:p.Lys13Asn
  variant of: http://identifiers.org/hgnc/30046
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17913
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14401
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28676
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6586
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys13Asn
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

8-10677806-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677806
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677806
    reference: chr 8
allele count: 3
allele frequency: 3.838476892369108e-5
allele num: 78156
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-27C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5856C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-27C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5856C>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.33C>G
  hgvsp: ENSP00000429346.1:p.Leu12Val
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5856C>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5856C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5856C>G
  variant of: http://identifiers.org/hgnc/30046
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19326
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu12Val
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

8-10677807-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677807
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677807
    reference: chr 8
allele count: 1
allele frequency: 1.29292511377741e-5
allele num: 77344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5855A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.32A>T
  hgvsp: ENSP00000429346.1:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-28A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5855A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5855A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-28A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5855A>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5855A>T
  variant of: http://identifiers.org/hgnc/18196
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30968
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu11Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS

8-10677809-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677809
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677809
    reference: chr 8
allele count: 14
allele frequency: 1.836836442835026e-4
allele num: 76218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5853T>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5853T>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.30T>C
  hgvsp: ENST00000524061.1:c.30T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-30T>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5853T>C
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5853T>C
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-30T>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5853T>C
  variant of: http://identifiers.org/hgnc/30046
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15730
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20074
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10230
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu11Leu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

8-10677810-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677810
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677810
    reference: chr 8
allele count: 1
allele frequency: 1.330565756559689e-5
allele num: 75156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5852C>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-31C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5852C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5852C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-31C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.29C>G
  hgvsp: ENST00000524061.1:c.29C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5852C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5852C>G
  variant of: http://identifiers.org/hgnc/18196
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31901
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val10Val
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

8-10677814-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677814
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677814
    reference: chr 8
allele count: 1
allele frequency: 1.398640521413186e-5
allele num: 71498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5848C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5848C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5848C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5848C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5848C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.25C>T
  hgvsp: ENSP00000429346.1:p.Thr9Ile
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-35C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-35C>T
  variant of: http://identifiers.org/hgnc/30046
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7826
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr9Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

8-10677817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677817
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677817
    reference: chr 8
allele count: 6
allele frequency: 8.716622599296859e-5
allele num: 68834
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-38G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5845G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-38G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.22G>A
  hgvsp: ENSP00000429346.1:p.Arg8Lys
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5845G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5845G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5845G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5845G>A
  variant of: http://identifiers.org/hgnc/30046
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg8Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/8-10677824-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677824
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677824
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 63394
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5838T>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.19-4T>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-45T>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5838T>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5838T>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-45T>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5838T>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5838T>G
  variant of: http://identifiers.org/hgnc/30046
canonical: false
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22487
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 1
hgvs: c.19-4T>G
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

8-10677831-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677831
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677831
    reference: chr 8
allele count: 2
allele frequency: 3.537318712415988e-5
allele num: 56540
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5831C>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-52C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5831C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-52C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.19-11C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5831C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5831C>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5831C>G
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8808
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6579
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

8-10677834-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677834
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677834
    reference: chr 8
allele count: 1
allele frequency: 1.864141376481992e-5
allele num: 53644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.19-14G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-55G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-55G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5828G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5828G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5828G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5828G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5828G>A
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13966
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10264
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

8-10677835-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677835
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677835
    reference: chr 8
allele count: 3
allele frequency: 5.696707303178763e-5
allele num: 52662
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5827C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.19-15C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5827C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5827C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-56C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5827C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5827C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-56C>T
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13741
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22961
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ

8-10677838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677838
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677838
    reference: chr 8
allele count: 1
allele frequency: 1.958173415837707e-5
allele num: 51068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5824C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.19-18C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-59C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5824C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5824C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5824C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5824C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-59C>T
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13094
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6576
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS

8-10677843-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677843
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677843
    reference: chr 8
allele count: 1
allele frequency: 2.107659233655103e-5
allele num: 47446
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-64C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-64C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5819C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5819C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.19-23C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5819C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5819C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5819C>T
  variant of: http://identifiers.org/hgnc/18196
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11923
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

8-10677849-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677849
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677849
    reference: chr 8
allele count: 2
allele frequency: 4.496200710399712e-5
allele num: 44482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5813A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5813A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-70A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5813A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-70A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.19-29A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5813A>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5813A>G
  variant of: http://identifiers.org/hgnc/18196
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14989
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22079
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

8-10677863-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677863
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677863
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 36348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5799C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-84C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-84C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5799C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.19-43C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5799C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5799C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5799C>T
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23882
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6651
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18046
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

8-10677864-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10677864
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10677864
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 35898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+5798C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+5798C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.425-85C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.19-44C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+5798C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.395-85C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+5798C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+5798C>T
  variant of: http://identifiers.org/hgnc/18196
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16487
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24030
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11810
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6808
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

8-10682834-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682834
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682834
    reference: chr 8
allele count: 2
allele frequency: 1.664031949413429e-5
allele num: 120190
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+828C>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+828C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+828C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+828C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+828C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+828C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+828C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+828C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+828C>G
  variant of: http://identifiers.org/hgnc/18196
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13252
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6801
  bin: 6.75e1
  variant carriers: 0
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: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

8-10682839-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682839
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682839
    reference: chr 8
allele count: 2
allele frequency: 1.6632569898375e-5
allele num: 120246
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+823T>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+823T>C
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+823T>C
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+823T>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+823T>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+823T>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+823T>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+823T>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+823T>C
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3218
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-10682840-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682840
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682840
    reference: chr 8
allele count: 1
allele frequency: 8.317253310266817e-6
allele num: 120232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+822G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+822G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+822G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+822G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+822G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+822G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+822G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+822G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+822G>A
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19941
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5097
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

8-10682843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682843
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682843
    reference: chr 8
allele count: 1
allele frequency: 8.31766839119658e-6
allele num: 120226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+819G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+819G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+819G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+819G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+819G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+819G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+819G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+819G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+819G>A
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9651
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/8-10682850-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682850
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682850
    reference: chr 8
allele count: 1
allele frequency: 8.316008316008316e-6
allele num: 120250
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+812G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+812G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+812G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+812G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+812G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+812G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+812G>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+812G>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+812G>T
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6834
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19928
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

8-10682854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682854
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682854
    reference: chr 8
allele count: 2
allele frequency: 1.663146340246478e-5
allele num: 120254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+808C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+808C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+808C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+808C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+808C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+808C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+808C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+808C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+808C>T
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

8-10682855-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682855
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682855
    reference: chr 8
allele count: 1
allele frequency: 8.315731701232391e-6
allele num: 120254
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+807C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+807C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+807C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+807C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+807C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+807C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+807C>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+807C>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+807C>T
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6802
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19928
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

8-10682855-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682855
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682855
    reference: chr 8
allele count: 2
allele frequency: 1.663146340246478e-5
allele num: 120254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+807C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+807C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+807C>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+807C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+807C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+807C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+807C>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+807C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+807C>G
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13332
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

8-10682860-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682860
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682860
    reference: chr 8
allele count: 3
allele frequency: 2.494678020223523e-5
allele num: 120256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+802T>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+802T>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+802T>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+802T>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+802T>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+802T>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+802T>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+802T>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+802T>A
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

8-10682862-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682862
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682862
    reference: chr 8
allele count: 14
allele frequency: 1.164163714680104e-4
allele num: 120258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+800G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+800G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+800G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+800G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+800G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+800G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+800G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+800G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+800G>A
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13341
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-10682865-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682865
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682865
    reference: chr 8
allele count: 1
allele frequency: 8.315316813570598e-6
allele num: 120260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+797A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+797A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+797A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+797A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+797A>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+797A>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+797A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+797A>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+797A>T
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-10682866-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682866
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682866
    reference: chr 8
allele count: 5
allele frequency: 4.157727552428944e-5
allele num: 120258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+796G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+796G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+796G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+796G>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+796G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+796G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+796G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+796G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+796G>T
  variant of: http://identifiers.org/hgnc/18196
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5085
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4672
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

8-10682869-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682869
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682869
    reference: chr 8
allele count: 1
allele frequency: 8.315455104857889e-6
allele num: 120258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+793G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+793G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+793G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+793G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+793G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+793G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+793G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+793G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+793G>A
  variant of: http://identifiers.org/hgnc/18196
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19919
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

8-10682871-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682871
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682871
    reference: chr 8
allele count: 1
allele frequency: 8.315316813570598e-6
allele num: 120260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+791C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+791C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+791C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+791C>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+791C>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+791C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+791C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+791C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+791C>G
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5084
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/8-10682874-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682874
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682874
    reference: chr 8
allele count: 1
allele frequency: 8.315178526882972e-6
allele num: 120262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+788T>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+788T>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+788T>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+788T>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+788T>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+788T>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+788T>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+788T>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+788T>G
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6856
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

8-10682878-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682878
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682878
    reference: chr 8
allele count: 1
allele frequency: 8.315178526882972e-6
allele num: 120262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+784C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+784C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+784C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+784C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+784C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+784C>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+784C>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+784C>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+784C>G
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

8-10682883-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682883
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682883
    reference: chr 8
allele count: 1
allele frequency: 8.314901967305805e-6
allele num: 120266
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+779A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+779A>G
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+779A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+779A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+779A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+779A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+779A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+779A>G
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+779A>G
  variant of: http://identifiers.org/hgnc/18196
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19919
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14279
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP

8-10682886-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682886
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682886
    reference: chr 8
allele count: 4
allele frequency: 3.325960786922322e-5
allele num: 120266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+776T>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+776T>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+776T>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+776T>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+776T>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+776T>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+776T>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+776T>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+776T>A
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13344
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5085
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/8-10682894-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682894
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682894
    reference: chr 8
allele count: 1
allele frequency: 8.314625426124552e-6
allele num: 120270
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+768G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+768G>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+768G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+768G>T
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+768G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+768G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+768G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+768G>T
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+768G>T
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

8-10682894-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682894
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682894
    reference: chr 8
allele count: 2297
allele frequency: 1.90986946038081e-2
allele num: 120270
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+768G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+768G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+768G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+768G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+768G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+768G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+768G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+768G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+768G>A
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13110
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12410
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 4.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 6.75e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 9428
  bin: 3.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 6.25e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 5.25e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 6641
  bin: 4.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 9.75e1
  variant carriers: 935
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 109
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4574
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4997
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 231
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

8-10682898-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682898
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682898
    reference: chr 8
allele count: 518
allele frequency: 4.306832731928762e-3
allele num: 120274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+764T>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+764T>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+764T>C
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+764T>C
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+764T>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+764T>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+764T>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+764T>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+764T>C
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 5.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 6.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 13421
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 6.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 9599
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12777
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 5.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 9.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 4.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 19485
  bin: 9.75e1
  variant carriers: 508
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 10
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-10682899-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682899
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682899
    reference: chr 8
allele count: 1
allele frequency: 8.314348903337379e-6
allele num: 120274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+763A>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+763A>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+763A>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+763A>C
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+763A>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+763A>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+763A>C
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+763A>C
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+763A>C
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/8-10682903-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682903
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682902
    reference: chr 8
allele count: 6
allele frequency: 4.988609342002428e-5
allele num: 120274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+758delT
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+758delT
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+758delT
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+758delT
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+758delT
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+758delT
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+758delT
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+758delT
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+758delT
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13538
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5166
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: CA
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

8-10682905-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682905
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682905
    reference: chr 8
allele count: 428
allele frequency: 3.558896409505912e-3
allele num: 120262
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+757G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+757G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+757G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+757G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+757G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+757G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+757G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+757G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+757G>A
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9632
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 5.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 6.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 13486
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12888
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 9.75e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14731
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 8
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

8-10682907-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682907
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682907
    reference: chr 8
allele count: 21
allele frequency: 1.74601326970085e-4
allele num: 120274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171056
  ensembl protein: ENSP00000452017
  ensembl transcript: ENST00000553390
  gene symbol: SOX7
  hgvsc: ENST00000553390.1:c.394+755G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000429346
  ensembl transcript: ENST00000524061
  gene symbol: PINX1
  hgvsc: ENST00000524061.1:c.18+755G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428853
  ensembl transcript: ENST00000519088
  gene symbol: PINX1
  hgvsc: ENST00000519088.1:c.394+755G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000318966
  ensembl transcript: ENST00000314787
  gene symbol: PINX1
  hgvsc: ENST00000314787.3:c.394+755G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428242
  ensembl transcript: ENST00000523559
  gene symbol: PINX1
  hgvsc: ENST00000523559.1:c.394+755G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000428728
  ensembl transcript: ENST00000524114
  gene symbol: PINX1
  hgvsc: ENST00000524114.1:c.424+755G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258724
  ensembl protein: ENSP00000451145
  ensembl transcript: ENST00000554914
  gene symbol: SOX7
  hgvsc: ENST00000554914.1:c.394+755G>A
  variant of: http://identifiers.org/hgnc/18196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl transcript: ENST00000517607
  gene symbol: PINX1
  hgvsc: ENST00000517607.1:n.265+755G>A
  variant of: http://identifiers.org/hgnc/30046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254093
  ensembl protein: ENSP00000411396
  ensembl transcript: ENST00000426190
  gene symbol: PINX1
  hgvsc: ENST00000426190.2:c.388+755G>A
  variant of: http://identifiers.org/hgnc/30046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9680
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7083
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

8-10682911-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10682911
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 10682911
allele count: 1
allele frequency: 8.314348903337379e-6
allele num: 120274
alternate allele: C
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4313
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 639
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2703
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39318
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.366680333470001e-4
allele num: 14634
num of homozygotes: 0

East Asian
type: Population
allele count: 69
allele frequency: 8.466257668711657e-3
allele num: 8150
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.247186239116585e-4
allele num: 9418
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

QD
type: SiteQuality
SIO_000300: 1.261e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.57271e6

GenotypeQuality
all individuals: 4218
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2724
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6830
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 468
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39841
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10748
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.061120543293718e-4
allele num: 9424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62964
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14672
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.003e0

MQRankSum
type: SiteQuality
SIO_000300: -1.165e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.251e0

DP
type: SiteQuality
SIO_000300: 1.574854e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-1

QD
type: SiteQuality
SIO_000300: 1.641e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 5.892e1

GenotypeQuality
all individuals: 592
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40381
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6832
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 3758
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2757
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10832
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.720798489344483e-4
allele num: 14828
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.24e-1

DP
type: SiteQuality
SIO_000300: 1.591154e6

QD
type: SiteQuality
SIO_000300: 1.484e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.229e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2757
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.576441655894315e-5
allele num: 63434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -6.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

QD
type: SiteQuality
SIO_000300: 1.484e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.229e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.24e-1

DP
type: SiteQuality
SIO_000300: 1.591154e6

GenotypeQuality
all individuals: 424
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 342
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.145247530980688e-5
allele num: 63588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.715014773032501e-5
allele num: 14892
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

FS
type: SiteQuality
SIO_000300: 1.202e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

DP
type: SiteQuality
SIO_000300: 1.595775e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

QD
type: SiteQuality
SIO_000300: 1.142e1

GenotypeQuality
all individuals: 856
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.145247530980688e-5
allele num: 63588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10860
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.054407423028258e-3
allele num: 9484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8264
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

QD
type: SiteQuality
SIO_000300: 1.142e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

FS
type: SiteQuality
SIO_000300: 1.202e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.595775e6

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 403
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 815
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variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.69254450542096e-5
allele num: 14942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.085e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.599777e6

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-2

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: -1.274e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.48e-1

FS
type: SiteQuality
SIO_000300: 2.615e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
all individuals: 195
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 7
allele frequency: 7.357578305654825e-4
allele num: 9514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.687174000267486e-5
allele num: 14954
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63958
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.903e0

QD
type: SiteQuality
SIO_000300: 1.062e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

DP
type: SiteQuality
SIO_000300: 1.6029e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 825
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.048136083966703e-5
allele num: 11052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.354e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.34e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.165e0

DP
type: SiteQuality
SIO_000300: 1.613922e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.658819144640805e-5
allele num: 64394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11064
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.671e-1

FS
type: SiteQuality
SIO_000300: 1.2843e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.616429e6

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

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

GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15140
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.048437827636821e-4
allele num: 9538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551205286507616e-5
allele num: 64466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.38e-1

DP
type: SiteQuality
SIO_000300: 1.620153e6

MQRankSum
type: SiteQuality
SIO_000300: -1.069e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.199e0

FS
type: SiteQuality
SIO_000300: 4.327e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.41e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 252
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GenotypeQuality
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GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 459
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551686683424883e-5
allele num: 64446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.773e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 4.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.416e0

DP
type: SiteQuality
SIO_000300: 1.623218e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 404
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56206067043644e-5
allele num: 64018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.614064e6

VQSLOD
type: SiteQuality
SIO_000300: -2.107e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 5.882e0

GenotypeQuality
all individuals: 2884
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.329610424145725e-4
allele num: 15042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.124121340872879e-5
allele num: 64018
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.614064e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.99e-1

FS
type: SiteQuality
SIO_000300: 5.882e0

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -2.107e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

GenotypeQuality
all individuals: 447
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14966
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567692983006208e-5
allele num: 63788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.475e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

QD
type: SiteQuality
SIO_000300: 1.496e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.24e-1

DP
type: SiteQuality
SIO_000300: 1.608857e6

GenotypeQuality
all individuals: 797
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 469
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 458
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6827
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 531
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.159957024584466e-5
allele num: 63292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10826
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

DP
type: SiteQuality
SIO_000300: 1.59795e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 8.26e-1

FS
type: SiteQuality
SIO_000300: 5.639e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

GenotypeQuality
all individuals: 779
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 744
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variant carriers: 0

GenotypeQuality
all individuals: 449
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GenotypeQuality
all individuals: 861
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
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variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
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variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6830
bin: 9.75e1
variant carriers: 5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.982884695213463e-5
allele num: 62634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10674
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.58e-1

DP
type: SiteQuality
SIO_000300: 1.582564e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 5.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.5e0

QD
type: SiteQuality
SIO_000300: 1.565e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.98e-1

GenotypeQuality
all individuals: 6838
bin: 9.75e1
variant carriers: 14

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 281
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GenotypeQuality
all individuals: 687
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 327
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variant carriers: 0

GenotypeQuality
all individuals: 605
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variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.080613788631943e-4
allele num: 9254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.780346820809249e-4
allele num: 10380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.140288004170196e-4
allele num: 61388
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 5.37e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

QD
type: SiteQuality
SIO_000300: 1.302e1

DP
type: SiteQuality
SIO_000300: 1.556261e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

GenotypeQuality
all individuals: 559
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 675
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GenotypeQuality
all individuals: 635
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GenotypeQuality
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GenotypeQuality
all individuals: 743
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6827
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2409
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.638001638001638e-5
allele num: 61050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.276161306789178e-4
allele num: 7836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14446
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.626e0

DP
type: SiteQuality
SIO_000300: 1.54691e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.129999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 2.659e0

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 649
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GenotypeQuality
all individuals: 410
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.729445539759953e-5
allele num: 57822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 1.399e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.472809e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.53e-1

QD
type: SiteQuality
SIO_000300: 1.073e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

GenotypeQuality
all individuals: 608
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 3.75e1
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GenotypeQuality
all individuals: 28791
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GenotypeQuality
all individuals: 826
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GenotypeQuality
all individuals: 637
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GenotypeQuality
all individuals: 2064
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GenotypeQuality
all individuals: 1415
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.072501072501073e-4
allele num: 9324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.32e-1

DP
type: SiteQuality
SIO_000300: 1.460075e6

FS
type: SiteQuality
SIO_000300: 2.271e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 8.449999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -7.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

GenotypeQuality
all individuals: 208
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 2.75e1
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GenotypeQuality
all individuals: 691
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variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13890
bin: 2.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2054
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variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.50914131312068e-5
allele num: 56994
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.96e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.31e0

FS
type: SiteQuality
SIO_000300: 8.593e0

DP
type: SiteQuality
SIO_000300: 1.454267e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e-1

QD
type: SiteQuality
SIO_000300: 1.156e1

GenotypeQuality
all individuals: 453
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variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 612
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variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.283321194464675e-5
allele num: 13730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8882
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.214e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.498e1

DP
type: SiteQuality
SIO_000300: 1.436657e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.313e0

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

GenotypeQuality
all individuals: 15059
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27120
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
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variant carriers: 0

GenotypeQuality
all individuals: 514
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GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 452
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GenotypeQuality
all individuals: 449
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GenotypeQuality
all individuals: 724
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6825
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1935
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56124
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.285443683520327e-5
allele num: 13726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9078
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8872
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5688
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

FS
type: SiteQuality
SIO_000300: 4.709e0

DP
type: SiteQuality
SIO_000300: 1.436428e6

QD
type: SiteQuality
SIO_000300: 2.426e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.024e0

VQSLOD
type: SiteQuality
SIO_000300: -2.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

GenotypeQuality
all individuals: 211
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
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GenotypeQuality
all individuals: 1511
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variant carriers: 0

GenotypeQuality
all individuals: 399
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variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
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variant carriers: 0

GenotypeQuality
all individuals: 22152
bin: 6.25e1
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GenotypeQuality
all individuals: 6825
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 377
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5452
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.313743637204998e-4
allele num: 8644
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.309e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.855e-1

FS
type: SiteQuality
SIO_000300: 1.655e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.87e0

DP
type: SiteQuality
SIO_000300: 1.371505e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

GenotypeQuality
all individuals: 1417
bin: 3.25e1
variant carriers: 15

GenotypeQuality
all individuals: 890
bin: 3.75e1
variant carriers: 18

GenotypeQuality
all individuals: 21359
bin: 2.25e1
variant carriers: 9

GenotypeQuality
all individuals: 133
bin: 1.25e1
variant carriers: 9

GenotypeQuality
all individuals: 630
bin: 5.75e1
variant carriers: 27

GenotypeQuality
all individuals: 129
bin: 2.5e0
variant carriers: 7

GenotypeQuality
all individuals: 575
bin: 7.5e0
variant carriers: 4

GenotypeQuality
all individuals: 508
bin: 8.25e1
variant carriers: 39

GenotypeQuality
all individuals: 527
bin: 7.75e1
variant carriers: 50

GenotypeQuality
all individuals: 1466
bin: 2.75e1
variant carriers: 12

GenotypeQuality
all individuals: 413
bin: 9.25e1
variant carriers: 41

GenotypeQuality
all individuals: 305
bin: 4.25e1
variant carriers: 20

GenotypeQuality
all individuals: 11770
bin: 9.75e1
variant carriers: 6237

African
type: Population
allele count: 1268
allele frequency: 1.502013740819711e-1
allele num: 8442
num of homozygotes: 70

European (Finnish)
type: Population
allele count: 207
allele frequency: 3.941355674028942e-2
allele num: 5252
num of homozygotes: 7

East Asian
type: Population
allele count: 2
allele frequency: 3.064664419246092e-4
allele num: 6526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3745
allele frequency: 7.376112818088711e-2
allele num: 50772
num of homozygotes: 126

Other
type: Population
allele count: 42
allele frequency: 5.898876404494382e-2
allele num: 712
num of homozygotes: 1

Latino
type: Population
allele count: 457
allele frequency: 5.832057172026544e-2
allele num: 7836
num of homozygotes: 9

South Asian
type: Population
allele count: 1111
allele frequency: 8.464117019655645e-2
allele num: 13126
num of homozygotes: 56

BaseQRankSum
type: SiteQuality
SIO_000300: -1.864e0

DP
type: SiteQuality
SIO_000300: 1.459336e6

VQSLOD
type: SiteQuality
SIO_000300: 4.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

FS
type: SiteQuality
SIO_000300: 6.04e-1

QD
type: SiteQuality
SIO_000300: 1.352e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 673
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 24832
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 5.25e1
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GenotypeQuality
all individuals: 136
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
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GenotypeQuality
all individuals: 1692
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 532
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variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1578
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.272324936923522e-5
allele num: 48354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5124
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7936
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
SIO_000300: 1.286641e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.423e1

GenotypeQuality
all individuals: 289
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 355
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
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variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.5e0
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GenotypeQuality
all individuals: 745
bin: 7.5e0
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GenotypeQuality
all individuals: 444
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25399
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17755
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.271940981938438e-4
allele num: 7862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5080
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.989e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.813e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

DP
type: SiteQuality
SIO_000300: 1.276612e6

VQSLOD
type: SiteQuality
SIO_000300: 3.78e-1

QD
type: SiteQuality
SIO_000300: 1.307e1

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
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variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6587
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.161507867888639e-5
allele num: 46264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7008
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4970
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7662
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12366
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.05e0

FS
type: SiteQuality
SIO_000300: 2.764e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-1

QD
type: SiteQuality
SIO_000300: 8.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

DP
type: SiteQuality
SIO_000300: 1.244808e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

GenotypeQuality
all individuals: 1161
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4840
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.245382585751979e-5
allele num: 12128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

DP
type: SiteQuality
SIO_000300: 1.214318e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

QD
type: SiteQuality
SIO_000300: 8.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6150
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.226542688081149e-4
allele num: 7098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42172
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4664
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11820
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5634
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

QD
type: SiteQuality
SIO_000300: 1.33e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.171019e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41688
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.799856011519078e-4
allele num: 5556
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7052
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

QD
type: SiteQuality
SIO_000300: 1.798e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

DP
type: SiteQuality
SIO_000300: 1.161413e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

FS
type: SiteQuality
SIO_000300: 2.808e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 14

GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5892
num of homozygotes: 0

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

South Asian
type: Population
allele count: 14
allele frequency: 1.202335967021642e-3
allele num: 11644
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41074
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.192e0

QD
type: SiteQuality
SIO_000300: 1.159e1

DP
type: SiteQuality
SIO_000300: 1.146388e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

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

GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4572
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

VQSLOD
type: SiteQuality
SIO_000300: -2.195e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

DP
type: SiteQuality
SIO_000300: 1.13573e6

QD
type: SiteQuality
SIO_000300: 1.759e1

MQ
type: SiteQuality
SIO_000300: 4.462e1

MQRankSum
type: SiteQuality
SIO_000300: 5.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.05e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.614242392554638e-5
allele num: 38252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
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MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.878e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

DP
type: SiteQuality
SIO_000300: 1.099008e6

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4290
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 1.2636899747262e-3
allele num: 4748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11126
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 1.077012e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.968e0

VQSLOD
type: SiteQuality
SIO_000300: 5.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.399e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4038
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4206
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

DP
type: SiteQuality
SIO_000300: 1.019407e6

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 3.488e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 322
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.754474839581223e-5
allele num: 29610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3706
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3432
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3680
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-2

FS
type: SiteQuality
SIO_000300: 8.5e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.66421e5

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.02e-1

QD
type: SiteQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

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

African
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allele frequency: 1.920122887864823e-4
allele num: 5208
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 27968
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South Asian
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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DP
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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Other
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 7.314218841427736e-5
allele num: 27344
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 2954
num of homozygotes: 0

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

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

South Asian
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allele frequency: 1.01440454453236e-4
allele num: 9858
num of homozygotes: 0

DP
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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ClippingRankSum
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MQ
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SIO_000300: 5.843e1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 3.773300128292204e-5
allele num: 26502
num of homozygotes: 0

East Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3448
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 4994
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Latino
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allele frequency: 0.0e0
allele num: 2712
num of homozygotes: 0

South Asian
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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DP
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MQ
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FS
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SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 24406
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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South Asian
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allele frequency: 1.051745898190997e-4
allele num: 9508
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3296
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -2.647e0

VQSLOD
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ClippingRankSum
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FS
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DP
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ReadPosRankSum
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MQ
type: SiteQuality
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MQRankSum
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SIO_000300: 1.09e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.69e-2

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

South Asian
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allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3192
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 5.376344086021505e-4
allele num: 1860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.421648390519986e-5
allele num: 22616
num of homozygotes: 0

QD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.36e-1

BaseQRankSum
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MQRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8722
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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ClippingRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele num: 16496
num of homozygotes: 0

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

European (Finnish)
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Latino
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African
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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DP
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BaseQRankSum
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FS
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
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DP
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QD
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MQRankSum
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VQSLOD
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SIO_000300: 1.46e-1

ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -4.888e0

FS
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GenotypeQuality
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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

Latino
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allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
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QD
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DP
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FS
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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SIO_000300: 5.973e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66294
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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East Asian
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allele num: 8626
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Other
type: Population
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Latino
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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QD
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DP
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ClippingRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 2

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

African
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allele count: 1
allele frequency: 1.026904908605463e-4
allele num: 9738
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508341126429153e-5
allele num: 66298
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele frequency: 1.508341126429153e-5
allele num: 66298
num of homozygotes: 0

African
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num of homozygotes: 0

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

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

ClippingRankSum
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VQSLOD
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QD
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MQRankSum
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FS
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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DP
type: SiteQuality
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MQ
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SIO_000300: 5.987e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

European (Finnish)
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South Asian
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Other
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.016682252858306e-5
allele num: 66298
num of homozygotes: 0

DP
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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MQ
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InbreedingCoeff
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

African
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Other
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European (Finnish)
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European (Non-Finnish)
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allele num: 66300
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East Asian
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South Asian
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MQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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VQSLOD
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DP
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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Latino
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allele frequency: 5.185825410544512e-4
allele num: 11570
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European (Finnish)
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Other
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South Asian
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MQRankSum
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BaseQRankSum
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QD
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MQ
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DP
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.508295625942685e-5
allele num: 66300
num of homozygotes: 0

East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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MQ
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QD
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 3.028467595396729e-4
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9738
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Latino
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allele frequency: 0.0e0
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East Asian
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VQSLOD
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MQRankSum
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MQ
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DP
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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QD
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FS
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8626
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South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 900
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Latino
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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DP
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MQ
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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InbreedingCoeff
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FS
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MQ
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ClippingRankSum
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DP
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VQSLOD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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Other
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African
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allele frequency: 0.0e0
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Latino
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South Asian
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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MQ
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ReadPosRankSum
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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East Asian
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQ
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DP
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BaseQRankSum
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QD
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ClippingRankSum
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Non-Finnish)
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Latino
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African
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East Asian
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European (Finnish)
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ClippingRankSum
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FS
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MQRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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Other
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South Asian
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ReadPosRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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MQRankSum
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QD
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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Latino
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South Asian
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European (Finnish)
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East Asian
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InbreedingCoeff
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VQSLOD
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.349e1

GenotypeQuality
all individuals: 20537
bin: 9.75e1
variant carriers: 2061

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6779
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2309
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14159
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3625
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 1

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

Other
type: Population
allele count: 6
allele frequency: 6.666666666666667e-3
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 2147
allele frequency: 2.204764838775929e-1
allele num: 9738
num of homozygotes: 231

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

Latino
type: Population
allele count: 99
allele frequency: 8.552176917760885e-3
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422774076317383e-4
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 41
allele frequency: 6.183452477905468e-4
allele num: 66306
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.274e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.31e-1

FS
type: SiteQuality
SIO_000300: 1.105e0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 2.602055e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.729e-1

QD
type: SiteQuality
SIO_000300: 1.349e1

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

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

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3700
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2347
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6959
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4676
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14611
bin: 6.25e1
variant carriers: 0

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

Other
type: Population
allele count: 9
allele frequency: 1.0e-2
allele num: 900
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: 8626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 336
allele frequency: 5.080133051103719e-2
allele num: 6614
num of homozygotes: 10

European (Non-Finnish)
type: Population
allele count: 172
allele frequency: 2.593955480485009e-3
allele num: 66308
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.026694045174538e-4
allele num: 9740
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

QD
type: SiteQuality
SIO_000300: 1.077e1

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

DP
type: SiteQuality
SIO_000300: 2.504963e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.31e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

GenotypeQuality
all individuals: 14746
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3720
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
all individuals: 7045
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5168
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4725
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3255
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19108
bin: 9.75e1
variant carriers: 1

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: 9740
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: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508113651444773e-5
allele num: 66308
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 1.6763e1

QD
type: SiteQuality
SIO_000300: 1.068e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 2.483057e6

VQSLOD
type: SiteQuality
SIO_000300: -2.972e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.439e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQRankSum
type: SiteQuality
SIO_000300: -1.502e0

GenotypeQuality
all individuals: 7045
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2358
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14747
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3719
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19111
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 4724
bin: 8.25e1
variant carriers: 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: 8626
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: 6
allele frequency: 6.160164271047228e-4
allele num: 9740
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66308
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.026e1

VQSLOD
type: SiteQuality
SIO_000300: 4.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

QD
type: SiteQuality
SIO_000300: 1.23e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.56e-1

DP
type: SiteQuality
SIO_000300: 2.483271e6

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4696
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2343
bin: 8.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3244
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19226
bin: 9.75e1
variant carriers: 419

GenotypeQuality
all individuals: 3702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7031
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.222222222222222e-3
allele num: 900
num of homozygotes: 0

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

Latino
type: Population
allele count: 15
allele frequency: 1.295784381478922e-3
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016227302889546e-5
allele num: 66308
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: 406
allele frequency: 4.173519736842105e-2
allele num: 9728
num of homozygotes: 8

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.181e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.85e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.72e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

DP
type: SiteQuality
SIO_000300: 2.498273e6

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4716
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18941
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 5184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14853
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3715
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 18
allele frequency: 1.848049281314168e-3
allele num: 9740
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508113651444773e-5
allele num: 66308
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
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

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: 8626
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.475896e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.741e0

VQSLOD
type: SiteQuality
SIO_000300: 4.09e0

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.59e-1

FS
type: SiteQuality
SIO_000300: 5.23e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

QD
type: SiteQuality
SIO_000300: 1.227e1