1-114280797-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114280797
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114280797
    reference: chr 1
allele count: 31
allele frequency: 2.555267973425213e-4
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+555A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.266A>G
  hgvsp: ENSP00000350428.2:p.Asn89Ser
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.266A>G
  hgvsp: ENSP00000393109.2:p.Asn89Ser
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.266A>G
  hgvsp: ENSP00000358617.1:p.Asn89Ser
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.151A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.266A>G
  hgvsp: ENSP00000377025.2:p.Asn89Ser
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.266A>G
  hgvsp: ENSP00000358611.1:p.Asn89Ser
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.266A>G
  hgvsp: ENSP00000404690.1:p.Asn89Ser
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000472612
  gene symbol: PHTF1
  hgvsc: ENST00000472612.1:n.94A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+555A>G
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10715
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24082
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32542
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn89Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-114280800-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114280800
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114280800
    reference: chr 1
allele count: 3
allele frequency: 2.473125370968806e-5
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.263G>T
  hgvsp: ENSP00000350428.2:p.Ser88Ile
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+552G>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.148G>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.263G>T
  hgvsp: ENSP00000358611.1:p.Ser88Ile
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.263G>T
  hgvsp: ENSP00000393109.2:p.Ser88Ile
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.263G>T
  hgvsp: ENSP00000404690.1:p.Ser88Ile
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.263G>T
  hgvsp: ENSP00000377025.2:p.Ser88Ile
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.263G>T
  hgvsp: ENSP00000358617.1:p.Ser88Ile
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+552G>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000472612
  gene symbol: PHTF1
  hgvsc: ENST00000472612.1:n.91G>T
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32598
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser88Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-114280806-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114280806
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114280806
    reference: chr 1
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.257T>G
  hgvsp: ENSP00000350428.2:p.Leu86Trp
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.257T>G
  hgvsp: ENSP00000358611.1:p.Leu86Trp
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.257T>G
  hgvsp: ENSP00000404690.1:p.Leu86Trp
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.257T>G
  hgvsp: ENSP00000393109.2:p.Leu86Trp
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.257T>G
  hgvsp: ENSP00000377025.2:p.Leu86Trp
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+546T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.142T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+546T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.257T>G
  hgvsp: ENSP00000358617.1:p.Leu86Trp
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000472612
  gene symbol: PHTF1
  hgvsc: ENST00000472612.1:n.85T>G
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu86Trp
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

1-114280807-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114280807
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114280807
    reference: chr 1
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.256T>C
  hgvsp: ENST00000369598.1:c.256T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.256T>C
  hgvsp: ENST00000369604.1:c.256T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+545T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.256T>C
  hgvsp: ENST00000357783.2:c.256T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.256T>C
  hgvsp: ENST00000447664.2:c.256T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.141T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.256T>C
  hgvsp: ENST00000446739.1:c.256T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+545T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.256T>C
  hgvsp: ENST00000393357.2:c.256T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000472612
  gene symbol: PHTF1
  hgvsc: ENST00000472612.1:n.84T>C
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu86Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

1-114280810-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114280810
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114280811
    reference: chr 1
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.252dupT
  hgvsp: ENSP00000393109.2:p.Pro85SerfsTer43
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.252dupT
  hgvsp: ENSP00000350428.2:p.Pro85SerfsTer43
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.252dupT
  hgvsp: ENSP00000377025.2:p.Pro85SerfsTer43
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.137dupT
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000472612
  gene symbol: PHTF1
  hgvsc: ENST00000472612.1:n.80dupT
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.252dupT
  hgvsp: ENSP00000358611.1:p.Pro85SerfsTer43
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.252dupT
  hgvsp: ENSP00000358617.1:p.Pro85SerfsTer43
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.252dupT
  hgvsp: ENSP00000404690.1:p.Pro85SerfsTer?
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+541dupT
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+541dupT
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro85SerfsTer43
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-114280817-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114280817
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114280817
    reference: chr 1
allele count: 8
allele frequency: 6.594022518586901e-5
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.246A>G
  hgvsp: ENST00000369598.1:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.246A>G
  hgvsp: ENST00000357783.2:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.246A>G
  hgvsp: ENST00000446739.1:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.246A>G
  hgvsp: ENST00000369604.1:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.246A>G
  hgvsp: ENST00000447664.2:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+535A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.131A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.246A>G
  hgvsp: ENST00000393357.2:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000472612
  gene symbol: PHTF1
  hgvsc: ENST00000472612.1:n.74A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+535A>G
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24229
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val82Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-114280824-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114280824
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114280824
    reference: chr 1
allele count: 3
allele frequency: 2.472758444470088e-5
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+528G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.239G>A
  hgvsp: ENSP00000358611.1:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.239G>A
  hgvsp: ENSP00000393109.2:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+528G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.124G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.239G>A
  hgvsp: ENSP00000358617.1:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000472612
  gene symbol: PHTF1
  hgvsc: ENST00000472612.1:n.67G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.239G>A
  hgvsp: ENSP00000377025.2:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.239G>A
  hgvsp: ENSP00000350428.2:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.239G>A
  hgvsp: ENSP00000404690.1:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg80Gln
num of homozygotes: 1
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

1-114280825-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114280825
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114280825
    reference: chr 1
allele count: 6
allele frequency: 4.945924558164073e-5
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.238C>T
  hgvsp: ENSP00000358617.1:p.Arg80Ter
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.238C>T
  hgvsp: ENSP00000350428.2:p.Arg80Ter
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.238C>T
  hgvsp: ENSP00000377025.2:p.Arg80Ter
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.238C>T
  hgvsp: ENSP00000358611.1:p.Arg80Ter
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+527C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.238C>T
  hgvsp: ENSP00000404690.1:p.Arg80Ter
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.238C>T
  hgvsp: ENSP00000393109.2:p.Arg80Ter
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000472612
  gene symbol: PHTF1
  hgvsc: ENST00000472612.1:n.66C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.123C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+527C>T
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg80Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

1-114280827-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114280827
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114280827
    reference: chr 1
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.236T>C
  hgvsp: ENSP00000377025.2:p.Val79Ala
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.121T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000472612
  gene symbol: PHTF1
  hgvsc: ENST00000472612.1:n.64T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.236T>C
  hgvsp: ENSP00000358617.1:p.Val79Ala
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+525T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.236T>C
  hgvsp: ENSP00000350428.2:p.Val79Ala
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.236T>C
  hgvsp: ENSP00000393109.2:p.Val79Ala
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.236T>C
  hgvsp: ENSP00000404690.1:p.Val79Ala
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+525T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.236T>C
  hgvsp: ENSP00000358611.1:p.Val79Ala
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val79Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

1-114280838-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114280838
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114280838
    reference: chr 1
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.225G>A
  hgvsp: ENST00000393357.2:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.225G>A
  hgvsp: ENST00000446739.1:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.225G>A
  hgvsp: ENST00000369598.1:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+514G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000472612
  gene symbol: PHTF1
  hgvsc: ENST00000472612.1:n.53G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+514G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.225G>A
  hgvsp: ENST00000447664.2:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.225G>A
  hgvsp: ENST00000357783.2:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.225G>A
  hgvsp: ENST00000369604.1:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.110G>A
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg75Arg
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ

1-114280839-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114280839
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114280839
    reference: chr 1
allele count: 9
allele frequency: 7.417297136923305e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.224G>A
  hgvsp: ENSP00000350428.2:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.224G>A
  hgvsp: ENSP00000404690.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000472612
  gene symbol: PHTF1
  hgvsc: ENST00000472612.1:n.52G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.224G>A
  hgvsp: ENSP00000393109.2:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.224G>A
  hgvsp: ENSP00000377025.2:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+513G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.224G>A
  hgvsp: ENSP00000358611.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.224G>A
  hgvsp: ENSP00000358617.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.109G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+513G>A
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7699
  bin: 9.75e1
  variant carriers: 9
hgvs: p.Arg75Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-114280840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114280840
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114280840
    reference: chr 1
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.223C>T
  hgvsp: ENSP00000358617.1:p.Arg75Trp
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.223C>T
  hgvsp: ENSP00000350428.2:p.Arg75Trp
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.223C>T
  hgvsp: ENSP00000377025.2:p.Arg75Trp
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+512C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.223C>T
  hgvsp: ENSP00000358611.1:p.Arg75Trp
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.108C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000472612
  gene symbol: PHTF1
  hgvsc: ENST00000472612.1:n.51C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.223C>T
  hgvsp: ENSP00000404690.1:p.Arg75Trp
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.223C>T
  hgvsp: ENSP00000393109.2:p.Arg75Trp
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+512C>T
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg75Trp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-114280846-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114280846
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114280846
    reference: chr 1
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.217C>G
  hgvsp: ENSP00000358617.1:p.Leu73Val
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.102C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.217C>G
  hgvsp: ENSP00000404690.1:p.Leu73Val
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000472612
  gene symbol: PHTF1
  hgvsc: ENST00000472612.1:n.45C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.217C>G
  hgvsp: ENSP00000393109.2:p.Leu73Val
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+506C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.217C>G
  hgvsp: ENSP00000377025.2:p.Leu73Val
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.217C>G
  hgvsp: ENSP00000350428.2:p.Leu73Val
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.217C>G
  hgvsp: ENSP00000358611.1:p.Leu73Val
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+506C>G
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3456
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu73Val
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

1-114280856-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114280856
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114280856
    reference: chr 1
allele count: 2935
allele frequency: 2.419261774839677e-2
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.207A>G
  hgvsp: ENST00000447664.2:c.207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.207A>G
  hgvsp: ENST00000357783.2:c.207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.207A>G
  hgvsp: ENST00000369598.1:c.207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.92A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.207A>G
  hgvsp: ENST00000369604.1:c.207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000472612
  gene symbol: PHTF1
  hgvsc: ENST00000472612.1:n.35A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+496A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.207A>G
  hgvsp: ENST00000393357.2:c.207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.207A>G
  hgvsp: ENST00000446739.1:c.207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+496A>G
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 3.75e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.75e1
  variant carriers: 249
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 9.75e1
  variant carriers: 376
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.25e1
  variant carriers: 204
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 5.25e1
  variant carriers: 280
genotype depth: GenotypeDepth
  all individuals: 24026
  bin: 2.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 13714
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 260
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.75e1
  variant carriers: 270
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 218
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.25e1
  variant carriers: 282
genotype depth: GenotypeDepth
  all individuals: 10280
  bin: 3.25e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro69Pro
num of homozygotes: 60
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-114280860-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114280860
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114280860
    reference: chr 1
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.203T>G
  hgvsp: ENSP00000377025.2:p.Ile68Ser
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.203T>G
  hgvsp: ENSP00000358611.1:p.Ile68Ser
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000472612
  gene symbol: PHTF1
  hgvsc: ENST00000472612.1:n.31T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.203T>G
  hgvsp: ENSP00000404690.1:p.Ile68Ser
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+492T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.203T>G
  hgvsp: ENSP00000350428.2:p.Ile68Ser
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.203T>G
  hgvsp: ENSP00000358617.1:p.Ile68Ser
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+492T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.203T>G
  hgvsp: ENSP00000393109.2:p.Ile68Ser
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.88T>G
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile68Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

1-114280872-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114280872
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114280872
    reference: chr 1
allele count: 2
allele frequency: 1.649620587264929e-5
allele num: 121240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+480C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.191C>G
  hgvsp: ENSP00000377025.2:p.Ala64Gly
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.191C>G
  hgvsp: ENSP00000404690.1:p.Ala64Gly
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.191C>G
  hgvsp: ENSP00000393109.2:p.Ala64Gly
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.191C>G
  hgvsp: ENSP00000358611.1:p.Ala64Gly
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+480C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.191C>G
  hgvsp: ENSP00000350428.2:p.Ala64Gly
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.191C>G
  hgvsp: ENSP00000358617.1:p.Ala64Gly
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.76C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000472612
  gene symbol: PHTF1
  hgvsc: ENST00000472612.1:n.19C>G
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala64Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

1-114280878-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114280878
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114280878
    reference: chr 1
allele count: 11
allele frequency: 9.077854985392906e-5
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.185C>T
  hgvsp: ENSP00000358611.1:p.Ala62Val
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+474C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.185C>T
  hgvsp: ENSP00000377025.2:p.Ala62Val
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.70C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.185C>T
  hgvsp: ENSP00000404690.1:p.Ala62Val
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.185C>T
  hgvsp: ENSP00000393109.2:p.Ala62Val
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.185C>T
  hgvsp: ENSP00000350428.2:p.Ala62Val
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.185C>T
  hgvsp: ENSP00000358617.1:p.Ala62Val
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000472612
  gene symbol: PHTF1
  hgvsc: ENST00000472612.1:n.13C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+474C>T
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10799
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25244
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala62Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

1-114280900-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114280900
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114280900
    reference: chr 1
allele count: 1
allele frequency: 8.298755186721992e-6
allele num: 120500
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+452A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.173-10A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.173-10A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.173-10A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+452A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.173-10A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.173-10A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.58-10A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.173-10A>G
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10527
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

1-114280928-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114280928
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114280928
    reference: chr 1
allele count: 1
allele frequency: 8.391796180054379e-6
allele num: 119164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.173-38A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.173-38A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.173-38A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.173-38A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.58-38A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+424A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.173-38A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+424A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.173-38A>G
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4227
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/1-114280933-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114280933
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114280933
    reference: chr 1
allele count: 1
allele frequency: 8.413684015683106e-6
allele num: 118854
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.173-43T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.173-43T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+419T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.173-43T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.173-43T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.173-43T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+419T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.58-43T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.173-43T>G
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11022
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4685
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5503
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

1-114281303-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281303
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281303
    reference: chr 1
allele count: 1
allele frequency: 8.331805835596807e-6
allele num: 120022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.172+49G>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.172+49G>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.172+49G>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+49G>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.172+49G>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+49G>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.172+49G>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.172+49G>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.57+49G>C
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5340
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum

1-114281303-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281303
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281303
    reference: chr 1
allele count: 2
allele frequency: 1.666361167119361e-5
allele num: 120022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+49G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.172+49G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.172+49G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.172+49G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.172+49G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.172+49G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.172+49G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+49G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.57+49G>A
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-114281318-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281318
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281318
    reference: chr 1
allele count: 1
allele frequency: 8.31255195344971e-6
allele num: 120300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.172+34T>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.172+34T>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+34T>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.172+34T>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.172+34T>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+34T>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.57+34T>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.172+34T>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.172+34T>A
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

1-114281322-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281322
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281322
    reference: chr 1
allele count: 3
allele frequency: 2.492025518341308e-5
allele num: 120384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.172+30T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.172+30T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.172+30T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.172+30T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.172+30T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+30T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.172+30T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+30T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.57+30T>C
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20145
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-114281323-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281323
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281323
    reference: chr 1
allele count: 3
allele frequency: 2.491735743118657e-5
allele num: 120398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.172+29A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+29A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.57+29A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+29A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.172+29A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.172+29A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.172+29A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.172+29A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.172+29A>G
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8414
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-114281327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281327
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281327
    reference: chr 1
allele count: 1
allele frequency: 8.300683976359652e-6
allele num: 120472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.57+25G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+25G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.172+25G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+25G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.172+25G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.172+25G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.172+25G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.172+25G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.172+25G>A
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8421
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

1-114281329-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281329
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281329
    reference: chr 1
allele count: 1
allele frequency: 8.293799555452344e-6
allele num: 120572
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.172+23A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.172+23A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+23A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.172+23A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.172+23A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.172+23A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.57+23A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+23A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.172+23A>G
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

1-114281329-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281329
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281329
    reference: chr 1
allele count: 1
allele frequency: 8.293799555452344e-6
allele num: 120572
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.57+23A>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.172+23A>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.172+23A>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.172+23A>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.172+23A>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.172+23A>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.172+23A>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+23A>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+23A>C
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7427
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8990
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-114281339-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281339
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281339
    reference: chr 1
allele count: 1
allele frequency: 8.274036074797286e-6
allele num: 120860
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.172+13A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.172+13A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.172+13A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.172+13A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.57+13A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.172+13A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.172+13A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.172+13A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.172+13A>G
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

1-114281353-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281353
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281353
    reference: chr 1
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.171A>T
  hgvsp: ENSP00000377025.2:p.Arg57Ser
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.171A>T
  hgvsp: ENSP00000404690.1:p.Arg57Ser
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.171A>T
  hgvsp: ENSP00000358617.1:p.Arg57Ser
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.171A>T
  hgvsp: ENSP00000358609.2:p.Arg57Ser
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.171A>T
  hgvsp: ENSP00000358611.1:p.Arg57Ser
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.171A>T
  hgvsp: ENSP00000350428.2:p.Arg57Ser
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.171A>T
  hgvsp: ENSP00000358613.1:p.Arg57Ser
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.56A>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.171A>T
  hgvsp: ENSP00000393109.2:p.Arg57Ser
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg57Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

1-114281357-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281357
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281357
    reference: chr 1
allele count: 2
allele frequency: 1.650246711883427e-5
allele num: 121194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.167T>A
  hgvsp: ENSP00000377025.2:p.Ile56Asn
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.167T>A
  hgvsp: ENSP00000358617.1:p.Ile56Asn
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.167T>A
  hgvsp: ENSP00000404690.1:p.Ile56Asn
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.167T>A
  hgvsp: ENSP00000358609.2:p.Ile56Asn
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.167T>A
  hgvsp: ENSP00000393109.2:p.Ile56Asn
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.167T>A
  hgvsp: ENSP00000350428.2:p.Ile56Asn
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.167T>A
  hgvsp: ENSP00000358611.1:p.Ile56Asn
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.167T>A
  hgvsp: ENSP00000358613.1:p.Ile56Asn
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.52T>A
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9076
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile56Asn
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ

1-114281362-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281362
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281362
    reference: chr 1
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.162C>T
  hgvsp: ENST00000446739.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.47C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.162C>T
  hgvsp: ENST00000369596.2:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.162C>T
  hgvsp: ENST00000369598.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.162C>T
  hgvsp: ENST00000393357.2:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.162C>T
  hgvsp: ENST00000447664.2:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.162C>T
  hgvsp: ENST00000357783.2:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.162C>T
  hgvsp: ENST00000369600.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.162C>T
  hgvsp: ENST00000369604.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3966
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp54Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-114281368-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281368
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281368
    reference: chr 1
allele count: 3
allele frequency: 2.474104374216534e-5
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.156C>T
  hgvsp: ENST00000446739.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.156C>T
  hgvsp: ENST00000369598.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.156C>T
  hgvsp: ENST00000393357.2:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.156C>T
  hgvsp: ENST00000369604.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.156C>T
  hgvsp: ENST00000369596.2:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.41C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.156C>T
  hgvsp: ENST00000357783.2:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.156C>T
  hgvsp: ENST00000447664.2:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.156C>T
  hgvsp: ENST00000369600.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3964
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9078
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp52Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

1-114281380-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281380
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281380
    reference: chr 1
allele count: 62
allele frequency: 5.112980372752763e-4
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.144A>G
  hgvsp: ENST00000447664.2:c.144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.144A>G
  hgvsp: ENST00000446739.1:c.144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.144A>G
  hgvsp: ENST00000369598.1:c.144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.144A>G
  hgvsp: ENST00000357783.2:c.144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.144A>G
  hgvsp: ENST00000369596.2:c.144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.144A>G
  hgvsp: ENST00000369604.1:c.144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.144A>G
  hgvsp: ENST00000369600.1:c.144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.144A>G
  hgvsp: ENST00000393357.2:c.144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.29A>G
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7984
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8422
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3449
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro48Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

1-114281384-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281384
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281384
    reference: chr 1
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.140A>G
  hgvsp: ENSP00000358617.1:p.Lys47Arg
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.140A>G
  hgvsp: ENSP00000358609.2:p.Lys47Arg
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.140A>G
  hgvsp: ENSP00000350428.2:p.Lys47Arg
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.140A>G
  hgvsp: ENSP00000404690.1:p.Lys47Arg
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.140A>G
  hgvsp: ENSP00000358611.1:p.Lys47Arg
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.140A>G
  hgvsp: ENSP00000393109.2:p.Lys47Arg
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.140A>G
  hgvsp: ENSP00000358613.1:p.Lys47Arg
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.25A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.140A>G
  hgvsp: ENSP00000377025.2:p.Lys47Arg
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys47Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

1-114281390-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281390
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281390
    reference: chr 1
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.134A>T
  hgvsp: ENSP00000377025.2:p.His45Leu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.134A>T
  hgvsp: ENSP00000358611.1:p.His45Leu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.134A>T
  hgvsp: ENSP00000350428.2:p.His45Leu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.134A>T
  hgvsp: ENSP00000358617.1:p.His45Leu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.134A>T
  hgvsp: ENSP00000358613.1:p.His45Leu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.134A>T
  hgvsp: ENSP00000358609.2:p.His45Leu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.134A>T
  hgvsp: ENSP00000393109.2:p.His45Leu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.134A>T
  hgvsp: ENSP00000404690.1:p.His45Leu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.19A>T
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12789
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His45Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

1-114281404-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281404
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281404
    reference: chr 1
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.120G>A
  hgvsp: ENST00000357783.2:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.120G>A
  hgvsp: ENST00000369598.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.5G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.120G>A
  hgvsp: ENST00000446739.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.120G>A
  hgvsp: ENST00000369600.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.120G>A
  hgvsp: ENST00000369596.2:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.120G>A
  hgvsp: ENST00000369604.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.120G>A
  hgvsp: ENST00000447664.2:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.120G>A
  hgvsp: ENST00000393357.2:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9074
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3455
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro40Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

1-114281405-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281405
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281405
    reference: chr 1
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.119C>T
  hgvsp: ENSP00000393109.2:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.119C>T
  hgvsp: ENSP00000404690.1:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.119C>T
  hgvsp: ENSP00000350428.2:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.119C>T
  hgvsp: ENSP00000377025.2:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.119C>T
  hgvsp: ENSP00000358611.1:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.119C>T
  hgvsp: ENSP00000358617.1:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.119C>T
  hgvsp: ENSP00000358609.2:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.119C>T
  hgvsp: ENSP00000358613.1:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.4C>T
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9073
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12789
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro40Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

1-114281405-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281405
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281405
    reference: chr 1
allele count: 2
allele frequency: 1.650573574317075e-5
allele num: 121170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.119C>A
  hgvsp: ENSP00000393109.2:p.Pro40Gln
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000486855
  gene symbol: PHTF1
  hgvsc: ENST00000486855.1:n.4C>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.119C>A
  hgvsp: ENSP00000350428.2:p.Pro40Gln
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.119C>A
  hgvsp: ENSP00000358611.1:p.Pro40Gln
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.119C>A
  hgvsp: ENSP00000358617.1:p.Pro40Gln
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.119C>A
  hgvsp: ENSP00000404690.1:p.Pro40Gln
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.119C>A
  hgvsp: ENSP00000358609.2:p.Pro40Gln
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.119C>A
  hgvsp: ENSP00000377025.2:p.Pro40Gln
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.119C>A
  hgvsp: ENSP00000358613.1:p.Pro40Gln
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro40Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

1-114281409-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281409
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281409
    reference: chr 1
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.115A>G
  hgvsp: ENSP00000393109.2:p.Lys39Glu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.115A>G
  hgvsp: ENSP00000358611.1:p.Lys39Glu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.115A>G
  hgvsp: ENSP00000404690.1:p.Lys39Glu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.115A>G
  hgvsp: ENSP00000358617.1:p.Lys39Glu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.115A>G
  hgvsp: ENSP00000358609.2:p.Lys39Glu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.115A>G
  hgvsp: ENSP00000358613.1:p.Lys39Glu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.115A>G
  hgvsp: ENSP00000377025.2:p.Lys39Glu
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.115A>G
  hgvsp: ENSP00000350428.2:p.Lys39Glu
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9074
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21850
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys39Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

1-114281416-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281416
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281416
    reference: chr 1
allele count: 17
allele frequency: 1.404749706655208e-4
allele num: 121018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.108G>A
  hgvsp: ENST00000369598.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.108G>A
  hgvsp: ENST00000393357.2:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.108G>A
  hgvsp: ENST00000369596.2:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.108G>A
  hgvsp: ENST00000446739.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.108G>A
  hgvsp: ENST00000357783.2:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.108G>A
  hgvsp: ENST00000369600.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.108G>A
  hgvsp: ENST00000369604.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.108G>A
  hgvsp: ENST00000447664.2:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8428
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu36Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

1-114281424-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281424
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281423
    reference: chr 1
allele count: 14
allele frequency: 1.158748551564311e-4
allele num: 120820
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.103-4delC
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.103-4delC
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.103-4delC
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.103-4delC
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.103-4delC
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.103-4delC
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.103-4delC
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.103-4delC
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3959
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: c.103-4delC
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: AG
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-114281430-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281430
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281430
    reference: chr 1
allele count: 2
allele frequency: 1.65708320214758e-5
allele num: 120694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.103-9T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.103-9T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.103-9T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.103-9T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.103-9T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.103-9T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.103-9T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.103-9T>G
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-114281442-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281442
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281442
    reference: chr 1
allele count: 1
allele frequency: 8.294212298657997e-6
allele num: 120566
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.103-21T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.103-21T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.103-21T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.103-21T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.103-21T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.103-21T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.103-21T>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.103-21T>G
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8996
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  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: A
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS

1-114281466-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281466
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281466
    reference: chr 1
allele count: 1
allele frequency: 8.364001338240215e-6
allele num: 119560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.103-45G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.103-45G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.103-45G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.103-45G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.103-45G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.103-45G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.103-45G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.103-45G>A
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8016
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7809
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12765
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-114281467-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281467
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281467
    reference: chr 1
allele count: 2
allele frequency: 1.674060433581652e-5
allele num: 119470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.103-46G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.103-46G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.103-46G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.103-46G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.103-46G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.103-46G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.103-46G>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.103-46G>A
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12765
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5143
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

1-114281469-T-TTTTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281469
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281473
    reference: chr 1
allele count: 5
allele frequency: 4.222616333079976e-5
allele num: 118410
alternate allele: TTTTA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.103-52_103-49dupTAAA
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.103-52_103-49dupTAAA
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.103-52_103-49dupTAAA
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.103-52_103-49dupTAAA
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.103-52_103-49dupTAAA
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.103-52_103-49dupTAAA
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.103-52_103-49dupTAAA
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.103-52_103-49dupTAAA
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3837
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-114281469-TTTTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114281469
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114281465
    reference: chr 1
allele count: 3
allele frequency: 2.533569799847986e-5
allele num: 118410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.103-52_103-49delTAAA
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.103-52_103-49delTAAA
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.103-52_103-49delTAAA
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.103-52_103-49delTAAA
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.103-52_103-49delTAAA
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.103-52_103-49delTAAA
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.103-52_103-49delTAAA
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.103-52_103-49delTAAA
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3900
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: TTTTA
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-114300275-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300275
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300275
    reference: chr 1
allele count: 470
allele frequency: 3.941035402237166e-3
allele num: 119258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.102+46T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.102+46T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.102+46T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.102+46T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.102+46T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.102+46T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.102+46T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.888+46T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.102+46T>C
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 3.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12891
  bin: 2.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 9.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 1.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 3.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 16664
  bin: 2.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8115
  bin: 9.75e1
  variant carriers: 446
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5666
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 20707
  bin: 6.25e1
  variant carriers: 2
num of homozygotes: 11
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

1-114300276-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300276
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300276
    reference: chr 1
allele count: 60
allele frequency: 5.029337803855825e-4
allele num: 119300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.102+45A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.102+45A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.102+45A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.102+45A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.102+45A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.102+45A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.888+45A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.102+45A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.102+45A>G
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8388
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 12977
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17366
  bin: 2.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7841
  bin: 9.75e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22127
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-114300293-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300293
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300293
    reference: chr 1
allele count: 1
allele frequency: 8.357290900581667e-6
allele num: 119656
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.102+28T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.102+28T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.102+28T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.102+28T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.102+28T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.102+28T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.888+28T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.102+28T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.102+28T>C
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-114300294-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300294
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300294
    reference: chr 1
allele count: 2
allele frequency: 1.671206778414693e-5
allele num: 119674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.102+27A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.102+27A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.102+27A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.102+27A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.888+27A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.102+27A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.102+27A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.102+27A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.102+27A>G
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14861
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

1-114300296-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300296
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300296
    reference: chr 1
allele count: 1
allele frequency: 8.352265134304423e-6
allele num: 119728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.102+25C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.102+25C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.888+25C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.102+25C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.102+25C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.102+25C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.102+25C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.102+25C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.102+25C>G
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24611
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/1-114300298-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300298
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300298
    reference: chr 1
allele count: 2
allele frequency: 1.670564650851988e-5
allele num: 119720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.888+23G>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.102+23G>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.102+23G>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.102+23G>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.102+23G>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.102+23G>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.102+23G>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.102+23G>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.102+23G>T
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15405
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6332
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6033
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

1-114300299-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300299
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300299
    reference: chr 1
allele count: 1
allele frequency: 8.347245409015026e-6
allele num: 119800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.102+22C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.102+22C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.888+22C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.102+22C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.102+22C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.102+22C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.102+22C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.102+22C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.102+22C>T
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33016
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-114300300-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300300
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300300
    reference: chr 1
allele count: 2
allele frequency: 1.668028890260379e-5
allele num: 119902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.102+21C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.102+21C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.102+21C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.102+21C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.102+21C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.888+21C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.102+21C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.102+21C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.102+21C>T
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15777
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS

1-114300308-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300308
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300308
    reference: chr 1
allele count: 1
allele frequency: 8.313104778372627e-6
allele num: 120292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.102+13C>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.102+13C>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.888+13C>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.102+13C>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.102+13C>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.102+13C>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.102+13C>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.102+13C>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.102+13C>A
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34889
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-114300315-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300315
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300315
    reference: chr 1
allele count: 2
allele frequency: 1.659475605708596e-5
allele num: 120520
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.102+6T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.102+6T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.102+6T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.102+6T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.102+6T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.102+6T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.102+6T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.888+6T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.102+6T>C
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7793
  bin: 9.75e1
  variant carriers: 2
hgvs: c.102+6T>C
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

1-114300317-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300317
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300317
    reference: chr 1
allele count: 2
allele frequency: 1.658457303016734e-5
allele num: 120594
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.102+4A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.888+4A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.102+4A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.102+4A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.102+4A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.102+4A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.102+4A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.102+4A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.102+4A>G
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7794
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
hgvs: c.102+4A>G
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

1-114300320-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300320
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300320
    reference: chr 1
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.102+1G>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.102+1G>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.102+1G>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.102+1G>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.102+1G>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.102+1G>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.888+1G>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.102+1G>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.102+1G>C
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
hgvs: c.102+1G>C
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

1-114300332-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300332
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300332
    reference: chr 1
allele count: 1
allele frequency: 8.264872638312644e-6
allele num: 120994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.91A>G
  hgvsp: ENSP00000404690.1:p.Thr31Ala
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.91A>G
  hgvsp: ENSP00000393109.2:p.Thr31Ala
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.91A>G
  hgvsp: ENSP00000358609.2:p.Thr31Ala
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.91A>G
  hgvsp: ENSP00000358613.1:p.Thr31Ala
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.91A>G
  hgvsp: ENSP00000358611.1:p.Thr31Ala
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.877A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.91A>G
  hgvsp: ENSP00000358617.1:p.Thr31Ala
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.91A>G
  hgvsp: ENSP00000377025.2:p.Thr31Ala
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.91A>G
  hgvsp: ENSP00000350428.2:p.Thr31Ala
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17127
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr31Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

1-114300341-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300341
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300341
    reference: chr 1
allele count: 1
allele frequency: 8.257911078813503e-6
allele num: 121096
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.868A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.82A>G
  hgvsp: ENSP00000377025.2:p.Ile28Val
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.82A>G
  hgvsp: ENSP00000358613.1:p.Ile28Val
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.82A>G
  hgvsp: ENSP00000358611.1:p.Ile28Val
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.82A>G
  hgvsp: ENSP00000393109.2:p.Ile28Val
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.82A>G
  hgvsp: ENSP00000358617.1:p.Ile28Val
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.82A>G
  hgvsp: ENSP00000358609.2:p.Ile28Val
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.82A>G
  hgvsp: ENSP00000350428.2:p.Ile28Val
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.82A>G
  hgvsp: ENSP00000404690.1:p.Ile28Val
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17290
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile28Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-114300353-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300353
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300353
    reference: chr 1
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.70T>C
  hgvsp: ENSP00000393109.2:p.Trp24Arg
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.70T>C
  hgvsp: ENSP00000358613.1:p.Trp24Arg
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.70T>C
  hgvsp: ENSP00000377025.2:p.Trp24Arg
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.70T>C
  hgvsp: ENSP00000358609.2:p.Trp24Arg
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.856T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.70T>C
  hgvsp: ENSP00000350428.2:p.Trp24Arg
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.70T>C
  hgvsp: ENSP00000358611.1:p.Trp24Arg
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.70T>C
  hgvsp: ENSP00000358617.1:p.Trp24Arg
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.70T>C
  hgvsp: ENSP00000404690.1:p.Trp24Arg
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Trp24Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

1-114300354-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300354
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300354
    reference: chr 1
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.69A>G
  hgvsp: ENSP00000358609.2:p.Ile23Met
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.69A>G
  hgvsp: ENSP00000358617.1:p.Ile23Met
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.855A>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.69A>G
  hgvsp: ENSP00000358611.1:p.Ile23Met
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.69A>G
  hgvsp: ENSP00000358613.1:p.Ile23Met
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.69A>G
  hgvsp: ENSP00000404690.1:p.Ile23Met
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.69A>G
  hgvsp: ENSP00000350428.2:p.Ile23Met
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.69A>G
  hgvsp: ENSP00000377025.2:p.Ile23Met
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.69A>G
  hgvsp: ENSP00000393109.2:p.Ile23Met
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile23Met
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

1-114300362-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300362
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300362
    reference: chr 1
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.61C>T
  hgvsp: ENSP00000358617.1:p.Gln21Ter
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.61C>T
  hgvsp: ENSP00000404690.1:p.Gln21Ter
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.61C>T
  hgvsp: ENSP00000393109.2:p.Gln21Ter
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.61C>T
  hgvsp: ENSP00000358611.1:p.Gln21Ter
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.61C>T
  hgvsp: ENSP00000358613.1:p.Gln21Ter
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.61C>T
  hgvsp: ENSP00000377025.2:p.Gln21Ter
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.847C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.61C>T
  hgvsp: ENSP00000358609.2:p.Gln21Ter
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.61C>T
  hgvsp: ENSP00000350428.2:p.Gln21Ter
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln21Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

1-114300368-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300368
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300368
    reference: chr 1
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.55T>A
  hgvsp: ENSP00000350428.2:p.Tyr19Asn
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.55T>A
  hgvsp: ENSP00000358617.1:p.Tyr19Asn
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.841T>A
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.55T>A
  hgvsp: ENSP00000393109.2:p.Tyr19Asn
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.55T>A
  hgvsp: ENSP00000404690.1:p.Tyr19Asn
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.55T>A
  hgvsp: ENSP00000358611.1:p.Tyr19Asn
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.55T>A
  hgvsp: ENSP00000358609.2:p.Tyr19Asn
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.55T>A
  hgvsp: ENSP00000358613.1:p.Tyr19Asn
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.55T>A
  hgvsp: ENSP00000377025.2:p.Tyr19Asn
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr19Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

1-114300369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300369
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300369
    reference: chr 1
allele count: 1
allele frequency: 8.262277744728666e-6
allele num: 121032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.54C>T
  hgvsp: ENST00000369598.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.54C>T
  hgvsp: ENST00000446739.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.54C>T
  hgvsp: ENST00000369600.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.54C>T
  hgvsp: ENST00000447664.2:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.840C>T
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.54C>T
  hgvsp: ENST00000393357.2:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.54C>T
  hgvsp: ENST00000357783.2:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.54C>T
  hgvsp: ENST00000369604.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.54C>T
  hgvsp: ENST00000369596.2:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala18Ala
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

1-114300376-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300376
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300376
    reference: chr 1
allele count: 3
allele frequency: 2.480856060731356e-5
allele num: 120926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.47T>C
  hgvsp: ENSP00000393109.2:p.Ile16Thr
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.47T>C
  hgvsp: ENSP00000377025.2:p.Ile16Thr
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.47T>C
  hgvsp: ENSP00000358613.1:p.Ile16Thr
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.833T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.47T>C
  hgvsp: ENSP00000358609.2:p.Ile16Thr
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.47T>C
  hgvsp: ENSP00000358611.1:p.Ile16Thr
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.47T>C
  hgvsp: ENSP00000358617.1:p.Ile16Thr
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.47T>C
  hgvsp: ENSP00000350428.2:p.Ile16Thr
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.47T>C
  hgvsp: ENSP00000404690.1:p.Ile16Thr
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36675
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile16Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

1-114300382-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300382
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300382
    reference: chr 1
allele count: 7
allele frequency: 5.79527767659039e-5
allele num: 120788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.832-5T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.46-5T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.46-5T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.46-5T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.46-5T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.46-5T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.46-5T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.46-5T>C
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.46-5T>C
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25215
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17594
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: c.46-5T>C
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ

1-114300386-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 114300386
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 114300386
    reference: chr 1
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358611
  ensembl transcript: ENST00000369598
  gene symbol: PHTF1
  hgvsc: ENST00000369598.1:c.46-9C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358613
  ensembl transcript: ENST00000369600
  gene symbol: PHTF1
  hgvsc: ENST00000369600.1:c.46-9C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000377025
  ensembl transcript: ENST00000393357
  gene symbol: PHTF1
  hgvsc: ENST00000393357.2:c.46-9C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000393109
  ensembl transcript: ENST00000447664
  gene symbol: PHTF1
  hgvsc: ENST00000447664.2:c.46-9C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000350428
  ensembl transcript: ENST00000357783
  gene symbol: PHTF1
  hgvsc: ENST00000357783.2:c.46-9C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl transcript: ENST00000493212
  gene symbol: PHTF1
  hgvsc: ENST00000493212.1:n.832-9C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358609
  ensembl transcript: ENST00000369596
  gene symbol: PHTF1
  hgvsc: ENST00000369596.2:c.46-9C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000404690
  ensembl transcript: ENST00000446739
  gene symbol: PHTF1
  hgvsc: ENST00000446739.1:c.46-9C>G
  variant of: http://identifiers.org/hgnc/8939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116793
  ensembl protein: ENSP00000358617
  ensembl transcript: ENST00000369604
  gene symbol: PHTF1
  hgvsc: ENST00000369604.1:c.46-9C>G
  variant of: http://identifiers.org/hgnc/8939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

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

GenotypeQuality
all individuals: 2849
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7716
bin: 9.75e1
variant carriers: 31

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

GenotypeQuality
all individuals: 8705
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3481
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2351
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99868058054456e-5
allele num: 66696
num of homozygotes: 0

African
type: Population
allele count: 29
allele frequency: 2.791682710820177e-3
allele num: 10388
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

DP
type: SiteQuality
SIO_000300: 1.970735e6

FS
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.509e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

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

GenotypeQuality
all individuals: 3483
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8682
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7694
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2851
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1355
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.887947631882942e-4
allele num: 10388
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: 5.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.591e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e-1

FS
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

DP
type: SiteQuality
SIO_000300: 1.969994e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.03e-1

GenotypeQuality
all individuals: 1051
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2357
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8681
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3478
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2840
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7692
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32630
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.0e-3

FS
type: SiteQuality
SIO_000300: 3.955e0

QD
type: SiteQuality
SIO_000300: 1.449e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

DP
type: SiteQuality
SIO_000300: 1.970171e6

GenotypeQuality
all individuals: 8685
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1052
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32678
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2840
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3473
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2356
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7693
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.1098e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

DP
type: SiteQuality
SIO_000300: 1.970284e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
SIO_000300: 1.708e1

VQSLOD
type: SiteQuality
SIO_000300: -1.506e0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32692
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2349
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3457
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8648
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7690
bin: 9.75e1
variant carriers: 1

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

QD
type: SiteQuality
SIO_000300: 1.222e1

MQRankSum
type: SiteQuality
SIO_000300: -1.368e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

FS
type: SiteQuality
SIO_000300: 4.319e0

MQ
type: SiteQuality
SIO_000300: 5.991e1

DP
type: SiteQuality
SIO_000300: 1.971395e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

GenotypeQuality
all individuals: 2345
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2826
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7699
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 32724
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8657
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 9.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 8
allele frequency: 9.248554913294797e-4
allele num: 8650
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

DP
type: SiteQuality
SIO_000300: 1.971211e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

FS
type: SiteQuality
SIO_000300: 5.876e0

VQSLOD
type: SiteQuality
SIO_000300: 9.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

QD
type: SiteQuality
SIO_000300: 1.344e1

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3460
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8617
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7693
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 78
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2819
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2344
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32807
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 1

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.849e1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.26e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.355e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.67e-1

FS
type: SiteQuality
SIO_000300: 5.707e0

DP
type: SiteQuality
SIO_000300: 1.971852e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

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

GenotypeQuality
all individuals: 75
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8629
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2344
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2810
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3457
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32918
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7696
bin: 9.75e1
variant carriers: 6

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

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

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

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

Latino
type: Population
allele count: 6
allele frequency: 5.193905817174516e-4
allele num: 11552
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

DP
type: SiteQuality
SIO_000300: 1.972149e6

QD
type: SiteQuality
SIO_000300: 1.28e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

FS
type: SiteQuality
SIO_000300: 4.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

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

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7694
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2348
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2815
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3471
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8644
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33013
bin: 6.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 8.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.603e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.971772e6

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

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2819
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7697
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2346
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8653
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3462
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33064
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.426e0

VQSLOD
type: SiteQuality
SIO_000300: -8.192e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.115e0

QD
type: SiteQuality
SIO_000300: 1.411e1

MQRankSum
type: SiteQuality
SIO_000300: -7.37e-1

DP
type: SiteQuality
SIO_000300: 1.972423e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 8.061e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
all individuals: 8654
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33046
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2344
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3457
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2812
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.996282304970918e-5
allele num: 66708
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.887391722810395e-4
allele num: 10390
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.36e0

FS
type: SiteQuality
SIO_000300: 1.725e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

DP
type: SiteQuality
SIO_000300: 1.973103e6

QD
type: SiteQuality
SIO_000300: 1.321e1

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1342
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7697
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8652
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2345
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2812
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3460
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33060
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.049e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.97261e6

VQSLOD
type: SiteQuality
SIO_000300: 5.42e-1

FS
type: SiteQuality
SIO_000300: 7.007e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.69e-1

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1342
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2345
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2810
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8666
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7697
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.028e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: -2.211e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.58e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.972368e6

QD
type: SiteQuality
SIO_000300: 1.229e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.567e0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9247
bin: 9.75e1
variant carriers: 2865

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3230
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8427
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1165
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 32707
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2628
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 906
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 1

Latino
type: Population
allele count: 96
allele frequency: 8.307372793354102e-3
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 62
allele frequency: 5.968425105891413e-3
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 145
allele frequency: 8.784684357203441e-3
allele num: 16506
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 293
allele frequency: 4.429996976111279e-2
allele num: 6614
num of homozygotes: 6

Other
type: Population
allele count: 25
allele frequency: 2.753303964757709e-2
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2306
allele frequency: 3.457478709367878e-2
allele num: 66696
num of homozygotes: 50

East Asian
type: Population
allele count: 8
allele frequency: 9.248554913294797e-4
allele num: 8650
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.72e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

QD
type: SiteQuality
SIO_000300: 1.307e1

DP
type: SiteQuality
SIO_000300: 2.054367e6

GenotypeQuality
all individuals: 100
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34155
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2763
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 967
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6745
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3402
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8887
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2293
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.24e0

FS
type: SiteQuality
SIO_000300: 1.1534e1

QD
type: SiteQuality
SIO_000300: 1.519e1

MQ
type: SiteQuality
SIO_000300: 5.929e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

MQRankSum
type: SiteQuality
SIO_000300: -7.84e-1

DP
type: SiteQuality
SIO_000300: 1.946751e6

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8856
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34047
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2756
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6743
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2285
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 7.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.203e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.819e0

DP
type: SiteQuality
SIO_000300: 1.945042e6

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8805
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 961
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33962
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2742
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3376
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6745
bin: 9.75e1
variant carriers: 11

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

South Asian
type: Population
allele count: 11
allele frequency: 6.672328035909256e-4
allele num: 16486
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.832e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 1.943684e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.281e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

QD
type: SiteQuality
SIO_000300: 1.068e1

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

GenotypeQuality
all individuals: 2246
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32045
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8479
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2644
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6732
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 432
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1224
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507613447911955e-5
allele num: 66330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.649999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

DP
type: SiteQuality
SIO_000300: 1.915246e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.88e-1

FS
type: SiteQuality
SIO_000300: 4.172e0

QD
type: SiteQuality
SIO_000300: 9.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.36e0

GenotypeQuality
all individuals: 5759
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6724
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 200
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2856
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2233
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17362
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2156
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3057
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1737
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518741267237713e-5
allele num: 65844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15684
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.83e0

FS
type: SiteQuality
SIO_000300: 3.378e0

QD
type: SiteQuality
SIO_000300: 1.888e1

VQSLOD
type: SiteQuality
SIO_000300: -4.325e-1

DP
type: SiteQuality
SIO_000300: 1.746507e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.080000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

GenotypeQuality
all individuals: 1944
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1885
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3877
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2203
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6721
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3809
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15862
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3016
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2145
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15576
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521467912241731e-5
allele num: 65726
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.397e1

VQSLOD
type: SiteQuality
SIO_000300: 2.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.724822e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

FS
type: SiteQuality
SIO_000300: 6.676e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.605e0

GenotypeQuality
all individuals: 372
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8824
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2413
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1623
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12812
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16410
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3476
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4012
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15708
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507431637975218e-5
allele num: 66338
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.085e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 2.661793e6

QD
type: SiteQuality
SIO_000300: 1.314e1

FS
type: SiteQuality
SIO_000300: 2.383e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

GenotypeQuality
all individuals: 12812
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 916
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16410
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5340
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4012
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8824
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2413
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507431637975218e-5
allele num: 66338
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15708
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.085e0

FS
type: SiteQuality
SIO_000300: 2.383e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

DP
type: SiteQuality
SIO_000300: 2.661793e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

GenotypeQuality
all individuals: 3966
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12802
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 537
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5260
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19540
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8920
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3436
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505253334136135e-5
allele num: 66434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15862
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

QD
type: SiteQuality
SIO_000300: 1.19e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

DP
type: SiteQuality
SIO_000300: 2.680395e6

GenotypeQuality
all individuals: 3968
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 145
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8944
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1605
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12802
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3434
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5256
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 2.915451895043732e-4
allele num: 10290
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66462
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.86e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.65e-2

FS
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.68523e6

QD
type: SiteQuality
SIO_000300: 1.727e1

GenotypeQuality
all individuals: 514
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5258
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8952
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3966
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20321
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12802
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3439
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15916
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.513857542655954e-5
allele num: 66462
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e0

VQSLOD
type: SiteQuality
SIO_000300: -1.143e0

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

FS
type: SiteQuality
SIO_000300: 4.108e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 2.686566e6

QD
type: SiteQuality
SIO_000300: 1.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-1

GenotypeQuality
all individuals: 3439
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12800
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5260
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8965
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2402
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3965
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.268020559107433e-5
allele num: 15954
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66488
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.212e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.304e1

DP
type: SiteQuality
SIO_000300: 2.691999e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-2

MQ
type: SiteQuality
SIO_000300: 5.988e1

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8990
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5259
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3965
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 150
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3444
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20973
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12801
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2404
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503533303262667e-5
allele num: 66510
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.309e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

FS
type: SiteQuality
SIO_000300: 4.409e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.69427e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.909999999999999e-1

GenotypeQuality
all individuals: 3444
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2404
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3965
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20973
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5259
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12801
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 1
allele frequency: 6.239860227130913e-5
allele num: 16026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

VQSLOD
type: SiteQuality
SIO_000300: 6.909999999999999e-1

FS
type: SiteQuality
SIO_000300: 4.409e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 1.309e1

DP
type: SiteQuality
SIO_000300: 2.69427e6

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12800
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9040
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5264
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3964
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21572
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.15839389087326e-5
allele num: 16238
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.429e0

DP
type: SiteQuality
SIO_000300: 2.701284e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: -2.36e0

FS
type: SiteQuality
SIO_000300: 4.871e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.423e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.505e1

MQ
type: SiteQuality
SIO_000300: 5.883e1

GenotypeQuality
all individuals: 140
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5269
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12801
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 3449
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9068
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21935
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.34e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.12e0

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-3

DP
type: SiteQuality
SIO_000300: 2.706031e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 3964
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5268
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 124
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12800
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3449
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21966
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.57e-1

FS
type: SiteQuality
SIO_000300: 5.64e0

QD
type: SiteQuality
SIO_000300: 1.468e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.404e0

DP
type: SiteQuality
SIO_000300: 2.706578e6

MQ
type: SiteQuality
SIO_000300: 5.94e1

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

GenotypeQuality
all individuals: 1605
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3449
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21984
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12799
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5269
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9079
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.678668215253581e-5
allele num: 10332
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 8.808999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 1.218e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.864e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.497e0

DP
type: SiteQuality
SIO_000300: 2.706976e6

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

GenotypeQuality
all individuals: 21993
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 97
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5269
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3449
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12800
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 3
allele frequency: 1.822157434402332e-4
allele num: 16464
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.111e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.112e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

DP
type: SiteQuality
SIO_000300: 2.707316e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

QD
type: SiteQuality
SIO_000300: 1.104e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.89e-2

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21955
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5260
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 9073
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12841
bin: 9.75e1
variant carriers: 62

GenotypeQuality
all individuals: 3963
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2397
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 62
allele frequency: 3.76350613087289e-3
allele num: 16474
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.99e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

DP
type: SiteQuality
SIO_000300: 2.710444e6

QD
type: SiteQuality
SIO_000300: 1.15e1

VQSLOD
type: SiteQuality
SIO_000300: 8.070000000000001e-1

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9085
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5262
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3964
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12789
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 22000
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3452
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1602
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 9.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 2.707127e6

VQSLOD
type: SiteQuality
SIO_000300: 1.49e-1

FS
type: SiteQuality
SIO_000300: 1.597e0

QD
type: SiteQuality
SIO_000300: 1.38e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 1602
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9080
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 3454
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21943
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3964
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 6.73e0

VQSLOD
type: SiteQuality
SIO_000300: -8.332000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.661e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.872e1

DP
type: SiteQuality
SIO_000300: 2.70643e6

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 21880
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12789
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5261
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.975e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
SIO_000300: 8.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 2.705593e6

FS
type: SiteQuality
SIO_000300: 2.371e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1601
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21874
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3962
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3454
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5261
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.239e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

FS
type: SiteQuality
SIO_000300: 2.962e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.34e-1

DP
type: SiteQuality
SIO_000300: 2.705749e6

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
all individuals: 3454
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21874
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3962
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 12789
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9073
bin: 6.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 207
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5261
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.953506544246923e-4
allele num: 10238
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.239e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.34e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 2.962e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

DP
type: SiteQuality
SIO_000300: 2.705749e6

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 2.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 5262
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12786
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3962
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3454
bin: 7.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.404e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.239e1

DP
type: SiteQuality
SIO_000300: 2.705097e6

VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 1600
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5260
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3959
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12793
bin: 9.75e1
variant carriers: 17

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

GenotypeQuality
all individuals: 21747
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9063
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 17
allele frequency: 1.032932312553166e-3
allele num: 16458
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.02e-1

FS
type: SiteQuality
SIO_000300: 1.967e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.954e0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 2.704547e6

GenotypeQuality
all individuals: 328
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3454
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5256
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12785
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 21605
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1599
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2397
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.10115563559958e-4
allele num: 66630
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.01e1

QD
type: SiteQuality
SIO_000300: 1.443e1

DP
type: SiteQuality
SIO_000300: 2.701368e6

VQSLOD
type: SiteQuality
SIO_000300: 5.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.16e-1

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 409
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12772
bin: 9.75e1
variant carriers: 2

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

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

GenotypeQuality
all individuals: 3959
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3451
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9038
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5254
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 2.01328769881216e-4
allele num: 9934
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.713e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.797e0

VQSLOD
type: SiteQuality
SIO_000300: -3.244e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

FS
type: SiteQuality
SIO_000300: 2.408e0

MQRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.698456e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.77e0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5247
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1599
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3959
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12771
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3447
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.098304671301378e-5
allele num: 16398
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.67e-1

DP
type: SiteQuality
SIO_000300: 2.69214e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.638e0

QD
type: SiteQuality
SIO_000300: 1.983e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1709
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5146
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1594
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3295
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3935
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2386
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516576177621402e-5
allele num: 65938
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.756e1

DP
type: SiteQuality
SIO_000300: 2.617432e6

QD
type: SiteQuality
SIO_000300: 1.576e1

VQSLOD
type: SiteQuality
SIO_000300: -1.172e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.752e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

GenotypeQuality
all individuals: 555
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3036
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1833
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3505
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7741
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1593
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11422
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2386
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65864
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.344665885111372e-4
allele num: 8530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.31e1

DP
type: SiteQuality
SIO_000300: 2.613603e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.647e0

GenotypeQuality
all individuals: 3900
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5036
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8334
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3303
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1583
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6917
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3412
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12746
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3133
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.361275088547816e-4
allele num: 8470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.254075746175069e-4
allele num: 15948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531815814466469e-5
allele num: 65282
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.599429e6

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

QD
type: SiteQuality
SIO_000300: 1.053e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

FS
type: SiteQuality
SIO_000300: 2.574e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

GenotypeQuality
all individuals: 214
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2368
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5036
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3133
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6917
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8334
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12746
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.270378730875344e-5
allele num: 15948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531815814466469e-5
allele num: 65282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.903e1

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

FS
type: SiteQuality
SIO_000300: 2.574e0

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

DP
type: SiteQuality
SIO_000300: 2.599429e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e-1

QD
type: SiteQuality
SIO_000300: 1.053e1

GenotypeQuality
all individuals: 2147
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4031
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2695
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1191
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1432
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1984
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 119
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 625
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3166
bin: 3.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.2271714922049e-3
allele num: 898
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.052631578947368e-3
allele num: 11400
num of homozygotes: 0

African
type: Population
allele count: 440
allele frequency: 4.312879827484807e-2
allele num: 10202
num of homozygotes: 11

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

South Asian
type: Population
allele count: 10
allele frequency: 6.149305128520477e-4
allele num: 16262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.177118384827165e-5
allele num: 65380
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.92e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.641e0

DP
type: SiteQuality
SIO_000300: 1.82138e6

VQSLOD
type: SiteQuality
SIO_000300: 4.83e0

QD
type: SiteQuality
SIO_000300: 1.429e1

GenotypeQuality
all individuals: 1061
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3750
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2705
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2178
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2192
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5762
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1945
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 56
allele frequency: 8.562167451532017e-4
allele num: 65404
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.144770800049158e-5
allele num: 16274
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.958096729978461e-4
allele num: 10214
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.818877e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 9.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

QD
type: SiteQuality
SIO_000300: 1.543e1

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6041
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2172
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2741
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1869
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7790
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 1
allele frequency: 9.761811792268645e-5
allele num: 10244
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.539e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 3.022e0

QD
type: SiteQuality
SIO_000300: 1.159e1

MQRankSum
type: SiteQuality
SIO_000300: -1.154e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.887476e6

GenotypeQuality
all individuals: 234
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2174
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7791
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 31923
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1869
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 473
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6035
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.763718023823472e-5
allele num: 10242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65608
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165501165501166e-4
allele num: 8580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.13e0

FS
type: SiteQuality
SIO_000300: 6.189e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

DP
type: SiteQuality
SIO_000300: 1.890659e6

QD
type: SiteQuality
SIO_000300: 1.381e1

GenotypeQuality
all individuals: 7791
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32336
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2744
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1155
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 400
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6030
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523600572873815e-5
allele num: 65634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.333e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.822e0

FS
type: SiteQuality
SIO_000300: 2.521e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.336000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 1.897457e6

GenotypeQuality
all individuals: 32488
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1064
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2734
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 331
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7793
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1056
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1858
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.047201145747631e-5
allele num: 65634
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.385e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

FS
type: SiteQuality
SIO_000300: 1.7086e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 1.904315e6

QD
type: SiteQuality
SIO_000300: 9.199999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 927
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2170
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7790
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6066
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65694
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.759906304899473e-5
allele num: 10246
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.106e0

QD
type: SiteQuality
SIO_000300: 8.67e0

MQRankSum
type: SiteQuality
SIO_000300: 8.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.607e0

DP
type: SiteQuality
SIO_000300: 1.90944e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

GenotypeQuality
all individuals: 2184
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6127
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7793
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 461
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2746
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1870
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33147
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.745810055865922e-4
allele num: 11456
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65762
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: 2.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

DP
type: SiteQuality
SIO_000300: 1.911073e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.362e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1875
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2181
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2763
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 6204
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7793
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66008
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.697164724299878e-5
allele num: 11498
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

QD
type: SiteQuality
SIO_000300: 1.486e1

DP
type: SiteQuality
SIO_000300: 1.927162e6

FS
type: SiteQuality
SIO_000300: 3.575e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.907e0

VQSLOD
type: SiteQuality
SIO_000300: 9.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

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

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

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

GenotypeQuality
all individuals: 162
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1872
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35458
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2770
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6261
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511670093118878e-5
allele num: 66152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.093102607847916e-5
allele num: 16412
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.988e1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.576e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.93524e6

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

GenotypeQuality
all individuals: 2191
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2776
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1876
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35921
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6277
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.021056765656627e-5
allele num: 66202
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.56e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

FS
type: SiteQuality
SIO_000300: 6.45e-1

QD
type: SiteQuality
SIO_000300: 1.21e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

DP
type: SiteQuality
SIO_000300: 1.937533e6

GenotypeQuality
all individuals: 7793
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2198
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36103
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2774
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 210
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6284
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 845
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509570678099149e-5
allele num: 66244
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 1.632e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.12e-1

DP
type: SiteQuality
SIO_000300: 1.940403e6

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2780
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36784
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7795
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 285
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1880
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 94
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.646922631680494e-5
allele num: 10366
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

VQSLOD
type: SiteQuality
SIO_000300: -3.959e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.597e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

QD
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

DP
type: SiteQuality
SIO_000300: 1.94846e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6356
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37088
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7795
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1880
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2789
bin: 7.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502765087761481e-5
allele num: 66544
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.093e0

MQRankSum
type: SiteQuality
SIO_000300: 6.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.219e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e-1

DP
type: SiteQuality
SIO_000300: 1.951832e6

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

GenotypeQuality
all individuals: 7792
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6372
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2212
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37009
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2793
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.216e0

DP
type: SiteQuality
SIO_000300: 1.952985e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.153e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.681e0

VQSLOD
type: SiteQuality
SIO_000300: -1.086e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.48e-1

MQ
type: SiteQuality
SIO_000300: 5.851e1

MQRankSum
type: SiteQuality
SIO_000300: -1.119e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.49e-1

GenotypeQuality
all individuals: 2789
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6379
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7793
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37047
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2209
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502494140272853e-5
allele num: 66556
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.444e0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

QD
type: SiteQuality
SIO_000300: 9.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 1.301e0

DP
type: SiteQuality
SIO_000300: 1.952963e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2201
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 245
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2785
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 843
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7795
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37000
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6366
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502494140272853e-5
allele num: 66556
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.186e0

DP
type: SiteQuality
SIO_000300: 1.9533e6

VQSLOD
type: SiteQuality
SIO_000300: -1.028e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.689e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.644e0

QD
type: SiteQuality
SIO_000300: 6.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.913e1

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7793
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2199
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36951
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6364
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66512
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.752e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

QD
type: SiteQuality
SIO_000300: 7.94e0

DP
type: SiteQuality
SIO_000300: 1.952279e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: -1.624e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2768
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 311
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2197
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7794
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1872
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6361
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36948
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.952112e6

FS
type: SiteQuality
SIO_000300: 2.239e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.475e0

MQRankSum
type: SiteQuality
SIO_000300: 9.71e-1

QD
type: SiteQuality
SIO_000300: 1.08e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.86e-1

MQ
type: SiteQuality
SIO_000300: 5.769e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.588e0

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

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1868
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2754
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2181
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7795
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 87
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6326
bin: 6.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.514944466183066e-5
allele num: 66446
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

FS
type: SiteQuality
SIO_000300: 3.135e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

QD
type: SiteQuality
SIO_000300: 1.097e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

DP
type: SiteQuality
SIO_000300: 1.949484e6

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

GenotypeQuality
all individuals: 185
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7797
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1863
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2173
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36073
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2743
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6292
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

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

African
type: Population
allele count: 7
allele frequency: 6.776379477250726e-4
allele num: 10330
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.571e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

DP
type: SiteQuality
SIO_000300: 1.94508e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1