9-139744597-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744597
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744597
    reference: chr 9
allele count: 2
allele frequency: 1.683388324018585e-5
allele num: 118808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+8G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+8G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+8G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+8G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+8G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+8G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.633G>A
  variant of: http://identifiers.org/hgnc/30033
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8094
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
hgvs: c.285+8G>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/9-139744599-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744599
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744599
    reference: chr 9
allele count: 1
allele frequency: 8.428718329090879e-6
allele num: 118642
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+10A>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+10A>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+10A>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+10A>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.635A>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+10A>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+10A>C
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30051
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

9-139744604-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744604
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744604
    reference: chr 9
allele count: 1
allele frequency: 8.467113730271625e-6
allele num: 118104
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.640C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+15C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+15C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+15C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+15C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+15C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+15C>G
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7727
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

9-139744604-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744604
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744604
    reference: chr 9
allele count: 5
allele frequency: 4.233556865135813e-5
allele num: 118104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+15C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.640C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+15C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+15C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+15C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+15C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+15C>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14809
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7727
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

9-139744605-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744605
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744605
    reference: chr 9
allele count: 5
allele frequency: 4.2480161764456e-5
allele num: 117702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+16G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+16G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+16G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.641G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+16G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+16G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+16G>A
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

9-139744607-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744607
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744607
    reference: chr 9
allele count: 13
allele frequency: 1.107948250294032e-4
allele num: 117334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+18C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+18C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+18C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+18C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+18C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.643C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+18C>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14802
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10288
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29373
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43634
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

9-139744610-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744610
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744610
    reference: chr 9
allele count: 4
allele frequency: 3.420031122283213e-5
allele num: 116958
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+21G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+21G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+21G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+21G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+21G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+21G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.646G>A
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9951
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43381
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7380
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-139744611-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744611
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744611
    reference: chr 9
allele count: 1
allele frequency: 8.556808652644909e-6
allele num: 116866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+22C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+22C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+22C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+22C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+22C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.647C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+22C>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3035
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43516
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

9-139744612-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744612
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744612
    reference: chr 9
allele count: 1
allele frequency: 8.576035127439883e-6
allele num: 116604
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+23C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+23C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+23C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+23C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+23C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.648C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+23C>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29011
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

9-139744614-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744614
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744614
    reference: chr 9
allele count: 1
allele frequency: 8.602594542514021e-6
allele num: 116244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.650T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+25T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+25T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+25T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+25T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+25T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+25T>C
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3571
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
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: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

9-139744617-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744617
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744617
    reference: chr 9
allele count: 5
allele frequency: 4.324361724209507e-5
allele num: 115624
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+28C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+28C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+28C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+28C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+28C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.653C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+28C>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9063
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-139744621-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744621
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744621
    reference: chr 9
allele count: 1
allele frequency: 8.739578053171594e-6
allele num: 114422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+32G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+32G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+32G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+32G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+32G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.657G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+32G>A
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

9-139744622-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744622
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744622
    reference: chr 9
allele count: 1
allele frequency: 8.762091686527408e-6
allele num: 114128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+33G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.658G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+33G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+33G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+33G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+33G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+33G>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15424
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6711
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

9-139744625-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744625
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744625
    reference: chr 9
allele count: 37
allele frequency: 3.292986828052688e-4
allele num: 112360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+36C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+36C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+36C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+36C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+36C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.661C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+36C>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8094
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14733
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26205
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6346
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

9-139744631-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744631
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744631
    reference: chr 9
allele count: 2
allele frequency: 1.846824385469186e-5
allele num: 108294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.667C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+42C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+42C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+42C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+42C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+42C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+42C>G
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23089
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP

9-139744631-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744631
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744631
    reference: chr 9
allele count: 5
allele frequency: 4.617060963672964e-5
allele num: 108294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+42C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+42C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+42C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+42C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.667C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+42C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+42C>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23089
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5385
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

9-139744635-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744635
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744635
    reference: chr 9
allele count: 8
allele frequency: 7.55201449986784e-5
allele num: 105932
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.671C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+46C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+46C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+46C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+46C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+46C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+46C>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21306
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

9-139744637-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744637
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744637
    reference: chr 9
allele count: 1
allele frequency: 9.484246666287296e-6
allele num: 105438
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+48T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+48T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+48T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+48T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+48T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+48T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.673T>C
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

9-139744638-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744638
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744638
    reference: chr 9
allele count: 8
allele frequency: 7.651694850409365e-5
allele num: 104552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+49C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.674C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+49C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+49C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+49C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+49C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+49C>G
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14783
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20232
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

9-139744638-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744638
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744638
    reference: chr 9
allele count: 1
allele frequency: 9.564618563011706e-6
allele num: 104552
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+49C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+49C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+49C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+49C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.674C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+49C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+49C>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20232
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum

9-139744639-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744639
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744639
    reference: chr 9
allele count: 1
allele frequency: 9.577993601900274e-6
allele num: 104406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+50G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+50G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.675G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+50G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+50G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+50G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+50G>A
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

9-139744639-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744639
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744639
    reference: chr 9
allele count: 1
allele frequency: 9.577993601900274e-6
allele num: 104406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+50G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.675G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+50G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+50G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+50G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+50G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+50G>C
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15037
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4867
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

9-139744641-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744641
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744641
    reference: chr 9
allele count: 3
allele frequency: 2.915735251239187e-5
allele num: 102890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.677G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+52G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+52G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+52G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+52G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+52G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+52G>A
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9455
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19098
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14726
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

9-139744645-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744645
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744645
    reference: chr 9
allele count: 1
allele frequency: 9.94431185361973e-6
allele num: 100560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+56C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+56C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.681C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+56C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+56C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+56C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+56C>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16510
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

9-139744651-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744651
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744651
    reference: chr 9
allele count: 1
allele frequency: 1.042752867570386e-5
allele num: 95900
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+62A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+62A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.687A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+62A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+62A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+62A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+62A>G
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13299
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3472
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ

9-139744655-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744655
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744655
    reference: chr 9
allele count: 1
allele frequency: 1.079540547542966e-5
allele num: 92632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+66T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+66T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+66T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+66T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+66T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.691T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+66T>C
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-139744660-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744660
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744660
    reference: chr 9
allele count: 1
allele frequency: 1.137345889631955e-5
allele num: 87924
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+71C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+71C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+71C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+71C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+71C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.696C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+71C>A
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24404
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3569
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-139744660-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744660
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744660
    reference: chr 9
allele count: 3582
allele frequency: 4.073972976661663e-2
allele num: 87924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+71C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+71C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+71C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+71C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.696C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+71C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+71C>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10703
  bin: 2.75e1
  variant carriers: 533
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 3.75e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 11087
  bin: 2.25e1
  variant carriers: 755
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13807
  bin: 7.5e0
  variant carriers: 235
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 1.75e1
  variant carriers: 852
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 3.25e1
  variant carriers: 321
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 2.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15385
  bin: 1.25e1
  variant carriers: 647
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 3.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 1.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 5.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3569
  bin: 9.75e1
  variant carriers: 3370
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 7.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 2.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 4.75e1
  variant carriers: 17
num of homozygotes: 95
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

9-139744662-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744662
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744662
    reference: chr 9
allele count: 1
allele frequency: 1.185002607005735e-5
allele num: 84388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+73C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+73C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+73C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+73C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.698C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+73C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+73C>G
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10125
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

9-139744663-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744663
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744663
    reference: chr 9
allele count: 4
allele frequency: 4.785032418594636e-5
allele num: 83594
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.699T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+74T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+74T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+74T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+74T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+74T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+74T>C
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9936
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28081
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

9-139744663-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744663
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744663
    reference: chr 9
allele count: 1
allele frequency: 1.196258104648659e-5
allele num: 83594
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.699T>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+74T>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+74T>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+74T>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+74T>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+74T>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+74T>G
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28081
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-139744670-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744670
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744671
    reference: chr 9
allele count: 2
allele frequency: 2.629848783694938e-5
allele num: 76050
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+83dupG
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+83dupG
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.708dupG
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+83dupG
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+83dupG
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+83dupG
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+83dupG
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17816
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19146
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31680
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

9-139744672-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744672
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744672
    reference: chr 9
allele count: 421
allele frequency: 5.588742864728528e-3
allele num: 75330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+83G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.708G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+83G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+83G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+83G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+83G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+83G>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19097
  bin: 1.25e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 2.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 3.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18016
  bin: 7.5e0
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 2.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 1.75e1
  variant carriers: 127
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 12527
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 31947
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 10
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-139744673-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744673
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744673
    reference: chr 9
allele count: 3
allele frequency: 4.041819357620176e-5
allele num: 74224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+84C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+84C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+84C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.709C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+84C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+84C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+84C>A
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19330
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4353
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

9-139744673-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744673
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744673
    reference: chr 9
allele count: 3
allele frequency: 4.041819357620176e-5
allele num: 74224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+84C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+84C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+84C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+84C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+84C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.709C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+84C>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19330
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7128
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/9-139744676-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744676
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744676
    reference: chr 9
allele count: 2
allele frequency: 2.867876910722992e-5
allele num: 69738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+87C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+87C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+87C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.712C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+87C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+87C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+87C>A
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20383
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19148
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8932
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33591
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-139744677-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744677
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744677
    reference: chr 9
allele count: 1
allele frequency: 1.432254368375824e-5
allele num: 69820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+88A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.713A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+88A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+88A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+88A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+88A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+88A>G
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5668
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9283
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

9-139744678-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744678
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744678
    reference: chr 9
allele count: 1
allele frequency: 1.472927590879632e-5
allele num: 67892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+89G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+89G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+89G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+89G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.714G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+89G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+89G>A
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33937
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

9-139744684-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744684
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744684
    reference: chr 9
allele count: 1
allele frequency: 1.605291039265419e-5
allele num: 62294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+95C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+95C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+95C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+95C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+95C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.720C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+95C>G
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7887
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

9-139744684-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744684
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744684
    reference: chr 9
allele count: 3
allele frequency: 4.815873117796257e-5
allele num: 62294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+95C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.720C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+95C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+95C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+95C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+95C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+95C>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum

9-139744691-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744691
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744691
    reference: chr 9
allele count: 2
allele frequency: 3.695218387406695e-5
allele num: 54124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+102G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+102G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+102G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.727G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+102G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+102G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+102G>C
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19700
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21635
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3969
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

9-139744696-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744696
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744696
    reference: chr 9
allele count: 1
allele frequency: 1.991555803393611e-5
allele num: 50212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+107C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+107C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.732C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+107C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+107C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+107C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+107C>G
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18982
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11900
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21602
  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3194
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12718
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

9-139744696-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744696
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744696
    reference: chr 9
allele count: 21
allele frequency: 4.182267187126583e-4
allele num: 50212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+107C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+107C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.732C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+107C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+107C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+107C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+107C>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21602
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18982
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11900
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

9-139744697-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744697
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744697
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 50108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+108T>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+108T>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+108T>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+108T>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.733T>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+108T>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+108T>G
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21679
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2722
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12747
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32601
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

9-139744699-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744699
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744699
    reference: chr 9
allele count: 5
allele frequency: 1.024254342838414e-4
allele num: 48816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+110G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+110G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.735G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+110G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+110G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+110G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+110G>A
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21546
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12700
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18734
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 13598
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

9-139744701-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744701
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744701
    reference: chr 9
allele count: 1
allele frequency: 2.164502164502165e-5
allele num: 46200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+112G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.737G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+112G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+112G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+112G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+112G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+112G>A
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18087
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

9-139744712-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744712
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744712
    reference: chr 9
allele count: 101
allele frequency: 3.399986534706793e-3
allele num: 29706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.748G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+123G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+123G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+123G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+123G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+123G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+123G>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 21973
  bin: 7.5e0
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20281
  bin: 2.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11819
  bin: 1.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 6.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 21050
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4785
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3998
  bin: 1.75e1
  variant carriers: 5
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

9-139744717-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744717
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744717
    reference: chr 9
allele count: 2
allele frequency: 8.018603159329644e-5
allele num: 24942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+128C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.753C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+128C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+128C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+128C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+128C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+128C>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23260
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9584
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5686
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21662
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

9-139744718-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744718
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744718
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 25058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.754G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+129G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+129G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+129G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+129G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+129G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+129G>A
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 23314
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5626
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/9-139744720-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744720
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744720
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 23674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+131C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+131C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+131C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+131C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+131C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.756C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+131C>A
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23767
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4284
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21941
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15827
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

9-139744724-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744724
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744724
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 22534
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+135G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.760G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+135G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+135G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+135G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+135G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+135G>C
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 21374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24272
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14196
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6809
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4889
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

9-139744730-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744730
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744730
    reference: chr 9
allele count: 1
allele frequency: 5.216484089723526e-5
allele num: 19170
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.285+141C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.291+141C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.285+141C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.359+141C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.290+141C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.285+141C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.766C>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8498
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9637
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5360
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7609
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

9-139744910-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744910
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744910
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 84502
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.291-48G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.360-297G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.286-48G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.286-297G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.286-48G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.292-45G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.946G>C
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14823
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11083
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5267
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5033
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3589
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-139744912-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744912
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744912
    reference: chr 9
allele count: 1
allele frequency: 1.186098920649982e-5
allele num: 84310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.948G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.286-46G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.286-46G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.292-43G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.291-46G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.360-295G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.286-295G>A
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11630
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5034
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/9-139744916-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744916
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744916
    reference: chr 9
allele count: 10
allele frequency: 1.177717583323519e-4
allele num: 84910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.292-39C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.952C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.291-42C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.286-42C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.286-291C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.286-42C>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.360-291C>A
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18783
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14749
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7770
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12918
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

9-139744918-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744918
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744918
    reference: chr 9
allele count: 1
allele frequency: 1.174039635578097e-5
allele num: 85176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.291-40C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.292-37C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.360-289C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.286-40C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.286-289C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.954C>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.286-40C>G
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6084
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5002
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

9-139744918-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744918
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744916
    reference: chr 9
allele count: 1
allele frequency: 1.174039635578097e-5
allele num: 85176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.957_958delAG
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.286-286_286-285delAG
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.286-37_286-36delAG
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.360-286_360-285delAG
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.292-34_292-33delAG
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.286-37_286-36delAG
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.291-37_291-36delAG
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9380
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7634
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: CAG
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

9-139744919-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744919
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744919
    reference: chr 9
allele count: 18
allele frequency: 2.107185502563742e-4
allele num: 85422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.360-288A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.291-39A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.292-36A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.286-288A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.955A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.286-39A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.286-39A>G
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14867
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18135
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10589
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7526
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4962
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14146
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

9-139744920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744920
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744920
    reference: chr 9
allele count: 3
allele frequency: 3.502872355331372e-5
allele num: 85644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.360-287G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.286-287G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.956G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.286-38G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.291-38G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.292-35G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.286-38G>A
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17923
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5681
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4925
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

9-139744926-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744926
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744926
    reference: chr 9
allele count: 3
allele frequency: 3.445028823407822e-5
allele num: 87082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.291-32C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.286-32C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.286-281C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.286-32C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.292-29C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.962C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.360-281C>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15256
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15954
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14538
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4551
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6505
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4261
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

9-139744928-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744928
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744928
    reference: chr 9
allele count: 3
allele frequency: 3.411572052401747e-5
allele num: 87936
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.286-30A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.286-30A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.964A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.360-279A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.286-279A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.292-27A>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.291-30A>G
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14238
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18360
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6031
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3797
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

9-139744929-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744929
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744929
    reference: chr 9
allele count: 1
allele frequency: 1.133247206545636e-5
allele num: 88242
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.286-278C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.286-29C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.360-278C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.286-29C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.292-26C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.965C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.291-29C>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

9-139744931-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744931
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744931
    reference: chr 9
allele count: 3
allele frequency: 3.368439963171723e-5
allele num: 89062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.292-24T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.286-27T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.291-27T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.286-276T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.967T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.286-27T>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.360-276T>C
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

9-139744934-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744934
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744934
    reference: chr 9
allele count: 1
allele frequency: 1.106194690265487e-5
allele num: 90400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.286-24G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.286-24G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.970G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.360-273G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.292-21G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.286-273G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.291-24G>A
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10765
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4513
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

9-139744935-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744935
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744935
    reference: chr 9
allele count: 26
allele frequency: 2.856828919898912e-4
allele num: 91010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.291-23C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.360-272C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.292-20C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.286-23C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.286-272C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.971C>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.286-23C>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 13353
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10116
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23681
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13765
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4224
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

9-139744936-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744936
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744936
    reference: chr 9
allele count: 1
allele frequency: 1.091250354656365e-5
allele num: 91638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.360-271T>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.292-19T>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.286-22T>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.286-22T>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.972T>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.291-22T>G
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.286-271T>G
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24469
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/9-139744956-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744956
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744956
    reference: chr 9
allele count: 2
allele frequency: 1.985860672015251e-5
allele num: 100712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.992A>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.286-2A>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.293A>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.291-2A>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.286-2A>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.286-251A>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.360-251A>C
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33140
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34995
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 5.25e1
  variant carriers: 0
hgvs: n.291-2A>C
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

9-139744957-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744957
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744957
    reference: chr 9
allele count: 1
allele frequency: 9.900597996118965e-6
allele num: 101004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.294G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.286-1G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.286-1G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.286-250G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.291-1G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.993G>C
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.360-250G>C
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 3.25e1
  variant carriers: 0
hgvs: n.291-1G>C
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/9-139744963-ACC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744963
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744961
    reference: chr 9
allele count: 1
allele frequency: 9.76390868792595e-6
allele num: 102418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.293_294delCC
  hgvsp: ENSP00000444757.1:p.Pro98HisfsTer84
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.302_303delCC
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.286-242_286-241delCC
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.1001_1002delCC
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.360-242_360-241delCC
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.298_299delCC
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.293_294delCC
  hgvsp: ENSP00000360724.1:p.Pro98HisfsTer84
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35734
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9333
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro98HisfsTer84
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: ACC
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

9-139744967-ACGTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744967
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744963
    reference: chr 9
allele count: 1
allele frequency: 9.717606359201602e-6
allele num: 102906
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.299_302delGCGT
  hgvsp: ENSP00000360724.1:p.Cys100SerfsTer44
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.1007_1010delGCGT
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.299_302delGCGT
  hgvsp: ENSP00000444757.1:p.Cys100SerfsTer44
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.304_307delGCGT
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.308_311delGCGT
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.360-236_360-233delGCGT
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.286-236_286-233delGCGT
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33666
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35799
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys100SerfsTer44
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: ACGTG
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

9-139744971-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744971
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744971
    reference: chr 9
allele count: 3
allele frequency: 2.904218861933435e-5
allele num: 103298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.360-236G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.308G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.304G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.299G>A
  hgvsp: ENSP00000444757.1:p.Cys100Tyr
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.286-236G>A
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.299G>A
  hgvsp: ENSP00000360724.1:p.Cys100Tyr
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.1007G>A
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33252
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys100Tyr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

9-139744971-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139744971
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139744971
    reference: chr 9
allele count: 3
allele frequency: 2.904218861933435e-5
allele num: 103298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000463215
  gene symbol: PHPT1
  hgvsc: ENST00000463215.1:n.360-236G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000360724
  ensembl transcript: ENST00000371661
  gene symbol: PHPT1
  hgvsc: ENST00000371661.1:c.299G>T
  hgvsp: ENSP00000360724.1:p.Cys100Phe
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000444757
  ensembl transcript: ENST00000545326
  gene symbol: PHPT1
  hgvsc: ENST00000545326.1:c.299G>T
  hgvsp: ENSP00000444757.1:p.Cys100Phe
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000492540
  gene symbol: PHPT1
  hgvsc: ENST00000492540.1:n.1007G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000462205
  gene symbol: PHPT1
  hgvsc: ENST00000462205.1:n.308G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054148
  ensembl protein: ENSP00000247665
  ensembl transcript: ENST00000247665
  gene symbol: PHPT1
  hgvsc: ENST00000247665.10:c.286-236G>T
  variant of: http://identifiers.org/hgnc/30033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054148
  ensembl transcript: ENST00000497413
  gene symbol: PHPT1
  hgvsc: ENST00000497413.1:n.304G>T
  variant of: http://identifiers.org/hgnc/30033
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Cys100Phe
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 1352
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1695
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1592
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45005
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 209
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.324500232450023e-4
allele num: 8604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64960
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.28e-1

FS
type: SiteQuality
SIO_000300: 6.779e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.942e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.82e-1

QD
type: SiteQuality
SIO_000300: 1.08e1

MQRankSum
type: SiteQuality
SIO_000300: 7.26e-1

DP
type: SiteQuality
SIO_000300: 1.605712e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

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

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 230
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44916
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.601211e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.497e0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.01e-1

FS
type: SiteQuality
SIO_000300: 2.287e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.024e0

QD
type: SiteQuality
SIO_000300: 5.56e0

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

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1954
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548419064135518e-5
allele num: 64582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.587223e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

QD
type: SiteQuality
SIO_000300: 1.044e1

GenotypeQuality
all individuals: 1468
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 2.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548419064135518e-5
allele num: 64582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.827930782354375e-4
allele num: 16412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.926543577526305e-5
allele num: 10074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.044e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.587223e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 321
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1456
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44042
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7615
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64350
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.051385328939338e-4
allele num: 16386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.533e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.05e-1

FS
type: SiteQuality
SIO_000300: 6.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.577163e6

QD
type: SiteQuality
SIO_000300: 1.168e1

GenotypeQuality
all individuals: 1438
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2588
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1582
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7501
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 12
allele frequency: 1.200960768614892e-3
allele num: 9992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558263471187709e-5
allele num: 64174
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.719e0

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

QD
type: SiteQuality
SIO_000300: 1.311e1

DP
type: SiteQuality
SIO_000300: 1.568023e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.382e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

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

GenotypeQuality
all individuals: 279
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1401
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6036
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.023335345001006e-4
allele num: 9942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63992
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.754e0

DP
type: SiteQuality
SIO_000300: 1.557482e6

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 3.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

QD
type: SiteQuality
SIO_000300: 1.488e1

MQ
type: SiteQuality
SIO_000300: 5.933e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 209
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7375
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563477173233271e-5
allele num: 63960
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.479e0

DP
type: SiteQuality
SIO_000300: 1.553024e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.195e0

QD
type: SiteQuality
SIO_000300: 1.344e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

GenotypeQuality
all individuals: 455
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43208
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3274
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7335
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.008471157724889e-4
allele num: 9916
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5988
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63838
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.354e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.369e0

QD
type: SiteQuality
SIO_000300: 4.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.546567e6

VQSLOD
type: SiteQuality
SIO_000300: -3.218e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.209e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

GenotypeQuality
all individuals: 1514
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7265
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.571486940943521e-5
allele num: 63634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5954
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.374e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.57e-1

QD
type: SiteQuality
SIO_000300: 1.339e1

DP
type: SiteQuality
SIO_000300: 1.537379e6

GenotypeQuality
all individuals: 367
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 42484
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 555
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4068
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7070
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.379819133745835e-4
allele num: 8404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16164
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.947745168217609e-5
allele num: 11176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.157761778451433e-5
allele num: 63336
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.522181e6

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 2.154e0

QD
type: SiteQuality
SIO_000300: 1.174e1

VQSLOD
type: SiteQuality
SIO_000300: 9.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.115e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

GenotypeQuality
all individuals: 529
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6773
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 241
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41729
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5768
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.593422352528761e-5
allele num: 62758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11030
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.291e0

MQRankSum
type: SiteQuality
SIO_000300: -2.253e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.77e-1

QD
type: SiteQuality
SIO_000300: 1.689e1

DP
type: SiteQuality
SIO_000300: 1.494756e6

VQSLOD
type: SiteQuality
SIO_000300: -9.844000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 1214
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10990
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.597035901367063e-5
allele num: 62616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5734
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

DP
type: SiteQuality
SIO_000300: 1.48893e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.202e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: 8.799999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

QD
type: SiteQuality
SIO_000300: 1.52e1

GenotypeQuality
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6804
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 9.75e1
variant carriers: 36

GenotypeQuality
all individuals: 1265
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61706
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

South Asian
type: Population
allele count: 37
allele frequency: 2.331149193548387e-3
allele num: 15872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10764
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.952e0

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

QD
type: SiteQuality
SIO_000300: 1.316e1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.45415e6

GenotypeQuality
all individuals: 10402
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5385
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34907
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.349747094094396e-5
allele num: 59706
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.738e0

VQSLOD
type: SiteQuality
SIO_000300: 2.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.517e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

FS
type: SiteQuality
SIO_000300: 2.349e0

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

DP
type: SiteQuality
SIO_000300: 1.363005e6

GenotypeQuality
all individuals: 79
bin: 1.25e1
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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bin: 7.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9150
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5300
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 count: 5
allele frequency: 8.37436773523599e-5
allele num: 59706
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -2.738e0

DP
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SIO_000300: 1.363005e6

QD
type: SiteQuality
SIO_000300: 1.517e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 5112
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 15308
num of homozygotes: 0

African
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allele frequency: 1.11731843575419e-4
allele num: 8950
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 1.196458482890644e-4
allele num: 58506
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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DP
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
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MQ
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SIO_000300: 6.0e1

VQSLOD
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MQRankSum
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SIO_000300: -2.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 7336
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Latino
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allele frequency: 1.018952516812716e-4
allele num: 9814
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 15268
num of homozygotes: 0

DP
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MQ
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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SIO_000300: -2.098e0

QD
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ReadPosRankSum
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SIO_000300: 2.1e0

VQSLOD
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FS
type: SiteQuality
SIO_000300: 3.14e0

BaseQRankSum
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SIO_000300: 2.59e0

MQRankSum
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SIO_000300: 2.44e-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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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 766
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

European (Non-Finnish)
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allele frequency: 1.211030760181309e-4
allele num: 57802
num of homozygotes: 0

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

Latino
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allele frequency: 1.03327133705311e-4
allele num: 9678
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5048
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

InbreedingCoeff
type: SiteQuality
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DP
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 8.93e-1

VQSLOD
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ReadPosRankSum
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ClippingRankSum
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QD
type: SiteQuality
SIO_000300: 1.302e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

Other
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allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

East Asian
type: Population
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
allele num: 15194
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9678
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8832
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.730043943116155e-5
allele num: 57802
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.278022e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.93e-1

QD
type: SiteQuality
SIO_000300: 1.302e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5040
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15194
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7208
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.732021615629763e-5
allele num: 57736
num of homozygotes: 0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.2659e1

InbreedingCoeff
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QD
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.925e1

ClippingRankSum
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SIO_000300: 5.91e-1

DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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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 frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.732021615629763e-5
allele num: 57736
num of homozygotes: 0

QD
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VQSLOD
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BaseQRankSum
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FS
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MQ
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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European (Non-Finnish)
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allele num: 56946
num of homozygotes: 0

South Asian
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Latino
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allele frequency: 2.123142250530786e-4
allele num: 9420
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African
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allele frequency: 0.0e0
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Other
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ReadPosRankSum
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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QD
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DP
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ClippingRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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East Asian
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European (Non-Finnish)
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South Asian
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European (Finnish)
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African
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InbreedingCoeff
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ReadPosRankSum
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FS
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DP
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BaseQRankSum
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QD
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MQRankSum
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VQSLOD
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MQ
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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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African
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Latino
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European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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Other
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East Asian
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South Asian
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ClippingRankSum
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SIO_000300: -1.76e-1

DP
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QD
type: SiteQuality
SIO_000300: 1.511e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

FS
type: SiteQuality
SIO_000300: 4.872e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
all individuals: 763
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21792
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2347
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 427
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2347
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51412
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.264862130027827e-4
allele num: 7906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-1

DP
type: SiteQuality
SIO_000300: 1.068933e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.21e-1

FS
type: SiteQuality
SIO_000300: 5.482e0

VQSLOD
type: SiteQuality
SIO_000300: -1.936e0

QD
type: SiteQuality
SIO_000300: 6.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.826e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
all individuals: 483
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2105
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18041
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7538
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.335113484646195e-4
allele num: 7490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.739e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.439e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.98e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.008937e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-1

GenotypeQuality
all individuals: 110
bin: 8.75e1
variant carriers: 35

GenotypeQuality
all individuals: 18041
bin: 6.25e1
variant carriers: 25

GenotypeQuality
all individuals: 24404
bin: 2.25e1
variant carriers: 15

GenotypeQuality
all individuals: 500
bin: 1.75e1
variant carriers: 18

GenotypeQuality
all individuals: 1305
bin: 3.75e1
variant carriers: 10

GenotypeQuality
all individuals: 444
bin: 4.25e1
variant carriers: 13

GenotypeQuality
all individuals: 2140
bin: 6.75e1
variant carriers: 25

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 40

GenotypeQuality
all individuals: 213
bin: 8.25e1
variant carriers: 41

GenotypeQuality
all individuals: 443
bin: 7.25e1
variant carriers: 27

African
type: Population
allele count: 60
allele frequency: 8.01068090787717e-3
allele num: 7490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 495
allele frequency: 1.215022091310751e-1
allele num: 4074
num of homozygotes: 27

Latino
type: Population
allele count: 110
allele frequency: 1.459273016715309e-2
allele num: 7538
num of homozygotes: 3

Other
type: Population
allele count: 30
allele frequency: 4.807692307692308e-2
allele num: 624
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 2472
allele frequency: 5.06495103061099e-2
allele num: 48806
num of homozygotes: 49

South Asian
type: Population
allele count: 415
allele frequency: 3.020818168583491e-2
allele num: 13738
num of homozygotes: 15

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.98e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.37e0

QD
type: SiteQuality
SIO_000300: 1.439e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-1

DP
type: SiteQuality
SIO_000300: 1.008937e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.739e0

GenotypeQuality
all individuals: 27615
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2520
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17591
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.144910128265626e-5
allele num: 46622
num of homozygotes: 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: 7246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5464
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.32e-1

QD
type: SiteQuality
SIO_000300: 1.603e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 9.52988e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.435e0

GenotypeQuality
all individuals: 2670
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2108
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17037
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 9.75e1
variant carriers: 4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7272
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 5.589714924538849e-4
allele num: 7156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13354
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.842e0

DP
type: SiteQuality
SIO_000300: 9.40842e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.108e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.669999999999999e-1

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

GenotypeQuality
all individuals: 2670
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46134
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.375137513751375e-4
allele num: 7272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.108e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 9.40842e5

FS
type: SiteQuality
SIO_000300: 3.842e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

GenotypeQuality
all individuals: 140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4062
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11963
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2355
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 4.127115146512588e-4
allele num: 4846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41846
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

QD
type: SiteQuality
SIO_000300: 1.427e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 3.156e0

MQ
type: SiteQuality
SIO_000300: 6.01e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

DP
type: SiteQuality
SIO_000300: 8.37082e5

GenotypeQuality
all individuals: 301
bin: 4.75e1
variant carriers: 9

GenotypeQuality
all individuals: 490
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 283
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 571
bin: 9.75e1
variant carriers: 395

GenotypeQuality
all individuals: 1451
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 675
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 1076
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 8.75e1
variant carriers: 8

GenotypeQuality
all individuals: 134
bin: 8.25e1
variant carriers: 4

South Asian
type: Population
allele count: 1
allele frequency: 8.001280204832773e-5
allele num: 12498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 2.411381721726549e-4
allele num: 41470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4768
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 5.576208178438661e-3
allele num: 538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3230
num of homozygotes: 0

Latino
type: Population
allele count: 21
allele frequency: 3.348214285714286e-3
allele num: 6272
num of homozygotes: 0

African
type: Population
allele count: 386
allele frequency: 5.889533109551419e-2
allele num: 6554
num of homozygotes: 10

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.13e0

DP
type: SiteQuality
SIO_000300: 8.34451e5

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.459e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.876e0

GenotypeQuality
all individuals: 736
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2720
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.319572536963841e-5
allele num: 40986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12352
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.20991e5

QD
type: SiteQuality
SIO_000300: 1.144e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

GenotypeQuality
all individuals: 381
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4353
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32581
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3178
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12352
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.770992366412214e-4
allele num: 6288
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ReadPosRankSum
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ClippingRankSum
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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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BaseQRankSum
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SIO_000300: -2.45e0

DP
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SIO_000300: 8.20991e5

GenotypeQuality
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variant carriers: 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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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2944
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 492
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European (Non-Finnish)
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allele count: 2
allele frequency: 5.202101649066222e-5
allele num: 38446
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
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DP
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VQSLOD
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MQ
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

BaseQRankSum
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SIO_000300: -2.383e0

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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2946
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.599833610648919e-5
allele num: 38464
num of homozygotes: 0

South Asian
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num of homozygotes: 0

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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FS
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.41e-2

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.61259e5

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 5502
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2848
num of homozygotes: 0

Other
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allele count: 1
allele frequency: 2.11864406779661e-3
allele num: 472
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South Asian
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allele frequency: 0.0e0
allele num: 11698
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 37460
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
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DP
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VQSLOD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.56e-2

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.92e-1

BaseQRankSum
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QD
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SIO_000300: 1.278e1

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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3658
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.917663535041139e-5
allele num: 34274
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2552
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 3.041e0

VQSLOD
type: SiteQuality
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DP
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SIO_000300: 6.85295e5

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.67e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.282e0

QD
type: SiteQuality
SIO_000300: 1.269e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-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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Other
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allele frequency: 0.0e0
allele num: 442
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South Asian
type: Population
allele count: 2
allele frequency: 1.810938065918146e-4
allele num: 11044
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5346
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3658
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.917663535041139e-5
allele num: 34274
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4978
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 2552
num of homozygotes: 0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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SIO_000300: 6.85295e5

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.041e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-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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variant carriers: 2

South Asian
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele num: 400
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 2
allele frequency: 4.25531914893617e-4
allele num: 4700
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele num: 2142
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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MQ
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.1084e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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allele num: 27518
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East Asian
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African
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Other
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South Asian
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MQ
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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QD
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FS
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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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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African
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Latino
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allele frequency: 2.504173622704507e-3
allele num: 3594
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European (Non-Finnish)
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allele frequency: 4.360782033578022e-4
allele num: 27518
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European (Finnish)
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Other
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East Asian
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South Asian
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BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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FS
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MQ
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DP
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ClippingRankSum
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InbreedingCoeff
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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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European (Non-Finnish)
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African
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East Asian
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South Asian
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Latino
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Other
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European (Finnish)
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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QD
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FS
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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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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 5.285412262156448e-4
allele num: 9460
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European (Non-Finnish)
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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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num of homozygotes: 0

VQSLOD
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QD
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MQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.02e-1

DP
type: SiteQuality
SIO_000300: 5.6282e5

MQ
type: SiteQuality
SIO_000300: 5.863e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e-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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African
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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: 0.0e0
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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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South Asian
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allele frequency: 1.089561996077577e-4
allele num: 9178
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Other
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allele frequency: 0.0e0
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DP
type: SiteQuality
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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SIO_000300: -3.16e-2

FS
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ClippingRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 8.49e-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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variant carriers: 115

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 6.174364040503828e-5
allele num: 16196
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South Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
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African
type: Population
allele count: 96
allele frequency: 3.463203463203463e-2
allele num: 2772
num of homozygotes: 1

Latino
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allele count: 4
allele frequency: 2.743484224965706e-3
allele num: 1458
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.07e-2

ReadPosRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 3.04e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.297e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-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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Other
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allele frequency: 0.0e0
allele num: 224
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Latino
type: Population
allele count: 1
allele frequency: 8.802816901408451e-4
allele num: 1136
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 4.132231404958678e-4
allele num: 2420
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 13494
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1008
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.65e-2

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.1039e5

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

FS
type: SiteQuality
SIO_000300: 1.856e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 2432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13556
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Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1000
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 622
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6102
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.99e0

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

BaseQRankSum
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SIO_000300: -1.221e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.08985e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-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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variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1050
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12736
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2336
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.00777e5

FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12066
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

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

VQSLOD
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SIO_000300: 1.33e-1

ReadPosRankSum
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BaseQRankSum
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MQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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FS
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DP
type: SiteQuality
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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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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Latino
type: Population
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
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allele frequency: 9.811616954474098e-5
allele num: 10192
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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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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variant carriers: 0

East Asian
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num of homozygotes: 0

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

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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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African
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South Asian
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MQRankSum
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FS
type: SiteQuality
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7721
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8157
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 9.75e1
variant carriers: 8

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12556
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.640958319658681e-3
allele num: 6094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 9.32649e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.516e0

FS
type: SiteQuality
SIO_000300: 3.616e0

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

GenotypeQuality
all individuals: 332
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7634
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 902
bin: 7.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9874
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.09819555182543e-5
allele num: 47660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12598
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.45462e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.14e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.236e1

GenotypeQuality
all individuals: 902
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1392
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5002
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1971
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variant carriers: 0

GenotypeQuality
all individuals: 6084
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 461
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variant carriers: 0

GenotypeQuality
all individuals: 9874
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5792
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.09819555182543e-5
allele num: 47660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4646
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.236e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

DP
type: SiteQuality
SIO_000300: 9.45462e5

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

GenotypeQuality
all individuals: 2022
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2059
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2090
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11362
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variant carriers: 0

GenotypeQuality
all individuals: 461
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4652
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.287001287001287e-4
allele num: 7770
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 2.605014653207424e-3
allele num: 6142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47776
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.92016473942658e-5
allele num: 12626
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.115e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

FS
type: SiteQuality
SIO_000300: 6.166e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.951e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 9.56137e5

GenotypeQuality
all individuals: 1010
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2053
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 363
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variant carriers: 0

GenotypeQuality
all individuals: 749
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variant carriers: 0

GenotypeQuality
all individuals: 2019
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variant carriers: 0

GenotypeQuality
all individuals: 2082
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variant carriers: 0

GenotypeQuality
all individuals: 1924
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variant carriers: 3

GenotypeQuality
all individuals: 253
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variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47920
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.889178617992178e-4
allele num: 6136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5838
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

DP
type: SiteQuality
SIO_000300: 9.60982e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.298e0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.758e1

GenotypeQuality
all individuals: 1207
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
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variant carriers: 0

GenotypeQuality
all individuals: 783
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variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 938
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5970
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12766
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.766005523474768e-4
allele num: 7966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48732
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

QD
type: SiteQuality
SIO_000300: 1.005e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e-1

DP
type: SiteQuality
SIO_000300: 1.010198e6

MQ
type: SiteQuality
SIO_000300: 5.911e1

FS
type: SiteQuality
SIO_000300: 1.2061e1

VQSLOD
type: SiteQuality
SIO_000300: -1.632e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

GenotypeQuality
all individuals: 462
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4368
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
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variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
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variant carriers: 0

GenotypeQuality
all individuals: 14507
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12824
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.579279848389134e-4
allele num: 6332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8056
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.286230693394677e-4
allele num: 6086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.057e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

QD
type: SiteQuality
SIO_000300: 1.095e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

FS
type: SiteQuality
SIO_000300: 8.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.56e-1

DP
type: SiteQuality
SIO_000300: 1.028237e6

GenotypeQuality
all individuals: 5807
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1599
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1922
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14498
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19324
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12844
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.636125654450262e-4
allele num: 6112
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.294e0

MQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

QD
type: SiteQuality
SIO_000300: 8.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.92e-1

MQ
type: SiteQuality
SIO_000300: 3.7e1

DP
type: SiteQuality
SIO_000300: 1.037907e6

VQSLOD
type: SiteQuality
SIO_000300: -3.542e0

FS
type: SiteQuality
SIO_000300: 1.623e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
all individuals: 163
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1522
bin: 7.5e0
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GenotypeQuality
all individuals: 816
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 777
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variant carriers: 0

GenotypeQuality
all individuals: 21019
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
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variant carriers: 0

GenotypeQuality
all individuals: 387
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variant carriers: 0

GenotypeQuality
all individuals: 960
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variant carriers: 0

GenotypeQuality
all individuals: 14335
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.027243138988227e-5
allele num: 49774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4872
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.83e-1

QD
type: SiteQuality
SIO_000300: 1.238e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

DP
type: SiteQuality
SIO_000300: 1.05693e6

GenotypeQuality
all individuals: 427
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2545
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13949
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3571
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23771
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1922
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 967
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13018
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.981924845409862e-5
allele num: 50456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4940
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.241e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.96e-1

DP
type: SiteQuality
SIO_000300: 1.088199e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

FS
type: SiteQuality
SIO_000300: 4.402e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

GenotypeQuality
all individuals: 2588
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3410
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 648
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 24752
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1944
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 973
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13064
num of homozygotes: 0

East Asian
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: 6554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 5.115894691275431e-4
allele num: 50822
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4980
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.197e1

FS
type: SiteQuality
SIO_000300: 6.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.243e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

DP
type: SiteQuality
SIO_000300: 1.099579e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.462e0

GenotypeQuality
all individuals: 13616
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2100
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1920
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 107
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3980
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3284
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25604
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13126
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5010
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.955416503715291e-5
allele num: 51140
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

FS
type: SiteQuality
SIO_000300: 2.318e0

VQSLOD
type: SiteQuality
SIO_000300: 4.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.091e0

DP
type: SiteQuality
SIO_000300: 1.107748e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

QD
type: SiteQuality
SIO_000300: 1.222e1

GenotypeQuality
all individuals: 3101
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 668
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9990
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13934
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.237762e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.48e-1

FS
type: SiteQuality
SIO_000300: 3.116e0

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

GenotypeQuality
all individuals: 3097
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1922
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 376
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9836
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.162297665090961e-5
allele num: 13962
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.241897e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e0

MQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

QD
type: SiteQuality
SIO_000300: 1.672e1

FS
type: SiteQuality
SIO_000300: 9.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

GenotypeQuality
all individuals: 120
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 378
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3146
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.755186576333064e-5
allele num: 56974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7636
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

FS
type: SiteQuality
SIO_000300: 5.449e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

MQRankSum
type: SiteQuality
SIO_000300: 8.89e-1

DP
type: SiteQuality
SIO_000300: 1.256231e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.522e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.657e1

GenotypeQuality
all individuals: 9241
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3199
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1922
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variant carriers: 1

GenotypeQuality
all individuals: 1093
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 825
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57228
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.297353399065905e-4
allele num: 7708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.19e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 4.506e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 4.9e0

MQRankSum
type: SiteQuality
SIO_000300: -1.031e0

DP
type: SiteQuality
SIO_000300: 1.261554e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.196e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

GenotypeQuality
all individuals: 175
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 910
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3220
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 35392
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.219751539826704e-5
allele num: 57474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14238
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

QD
type: SiteQuality
SIO_000300: 1.055e1

DP
type: SiteQuality
SIO_000300: 1.264748e6

FS
type: SiteQuality
SIO_000300: 8.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0