5-131528755-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131528755
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131528755
    reference: chr 5
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.352A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1556A>C
  hgvsp: ENSP00000166534.4:p.His519Pro
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1556A>C
  hgvsp: ENSP00000368398.2:p.His519Pro
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1550A>C
  hgvsp: ENSP00000368379.1:p.His517Pro
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1550A>C
  hgvsp: ENSP00000368394.2:p.His517Pro
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.435A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000506807
  gene symbol: P4HA2
  hgvsc: ENST00000506807.1:n.387A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1556A>C
  hgvsp: ENSP00000384999.1:p.His519Pro
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1550A>C
  hgvsp: ENSP00000353772.3:p.His517Pro
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His519Pro
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/5-131528761-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131528761
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131528761
    reference: chr 5
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.346G>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1550G>T
  hgvsp: ENSP00000166534.4:p.Trp517Leu
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1550G>T
  hgvsp: ENSP00000368398.2:p.Trp517Leu
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1544G>T
  hgvsp: ENSP00000368379.1:p.Trp515Leu
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1550G>T
  hgvsp: ENSP00000384999.1:p.Trp517Leu
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.429G>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1544G>T
  hgvsp: ENSP00000368394.2:p.Trp515Leu
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000506807
  gene symbol: P4HA2
  hgvsc: ENST00000506807.1:n.381G>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1544G>T
  hgvsp: ENSP00000353772.3:p.Trp515Leu
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Trp517Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

5-131528763-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131528763
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131528763
    reference: chr 5
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000506807
  gene symbol: P4HA2
  hgvsc: ENST00000506807.1:n.379G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.344G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1542G>A
  hgvsp: ENST00000360568.3:c.1542G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1542G>A
  hgvsp: ENST00000379100.2:c.1542G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1548G>A
  hgvsp: ENST00000166534.4:c.1548G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1548G>A
  hgvsp: ENST00000401867.1:c.1548G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1542G>A
  hgvsp: ENST00000379086.1:c.1542G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.427G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1548G>A
  hgvsp: ENST00000379104.2:c.1548G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys516Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

5-131528767-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131528767
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131528767
    reference: chr 5
allele count: 4
allele frequency: 3.295164346321773e-5
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.340A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1544A>G
  hgvsp: ENSP00000368398.2:p.Asn515Ser
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000506807
  gene symbol: P4HA2
  hgvsc: ENST00000506807.1:n.375A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1544A>G
  hgvsp: ENSP00000166534.4:p.Asn515Ser
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1538A>G
  hgvsp: ENSP00000353772.3:p.Asn513Ser
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1538A>G
  hgvsp: ENSP00000368379.1:p.Asn513Ser
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1544A>G
  hgvsp: ENSP00000384999.1:p.Asn515Ser
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1538A>G
  hgvsp: ENSP00000368394.2:p.Asn513Ser
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.423A>G
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7064
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn515Ser
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

5-131528770-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131528770
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131528770
    reference: chr 5
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1535C>T
  hgvsp: ENSP00000368394.2:p.Ser512Phe
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1535C>T
  hgvsp: ENSP00000368379.1:p.Ser512Phe
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000506807
  gene symbol: P4HA2
  hgvsc: ENST00000506807.1:n.372C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1535C>T
  hgvsp: ENSP00000353772.3:p.Ser512Phe
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1541C>T
  hgvsp: ENSP00000368398.2:p.Ser514Phe
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.337C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.420C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1541C>T
  hgvsp: ENSP00000384999.1:p.Ser514Phe
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1541C>T
  hgvsp: ENSP00000166534.4:p.Ser514Phe
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8822
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser514Phe
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

5-131528799-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131528799
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131528799
    reference: chr 5
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.334-26G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1532-26G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1538-26G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000506807
  gene symbol: P4HA2
  hgvsc: ENST00000506807.1:n.343G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.417-26G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1538-26G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1532-26G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1538-26G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1532-26G>A
  variant of: http://identifiers.org/hgnc/8547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5076
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10746
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

5-131528805-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131528805
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131528805
    reference: chr 5
allele count: 15
allele frequency: 1.236419987141232e-4
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000506807
  gene symbol: P4HA2
  hgvsc: ENST00000506807.1:n.337A>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1532-32A>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1532-32A>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.334-32A>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.417-32A>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1538-32A>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1538-32A>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1538-32A>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1532-32A>T
  variant of: http://identifiers.org/hgnc/8547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7060
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8500
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9435
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8615
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

5-131528807-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131528807
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131528807
    reference: chr 5
allele count: 3
allele frequency: 2.472962279082036e-5
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.417-34A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1532-34A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1538-34A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.334-34A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1532-34A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1532-34A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1538-34A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000506807
  gene symbol: P4HA2
  hgvsc: ENST00000506807.1:n.335A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1538-34A>G
  variant of: http://identifiers.org/hgnc/8547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7059
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8400
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

5-131528817-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131528817
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131528817
    reference: chr 5
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1538-44A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1538-44A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.417-44A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000506807
  gene symbol: P4HA2
  hgvsc: ENST00000506807.1:n.325A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.334-44A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1532-44A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1532-44A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1532-44A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1538-44A>G
  variant of: http://identifiers.org/hgnc/8547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26985
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4173
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

5-131528823-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131528823
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131528823
    reference: chr 5
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1538-50G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.417-50G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000506807
  gene symbol: P4HA2
  hgvsc: ENST00000506807.1:n.319G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1532-50G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1538-50G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1532-50G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1538-50G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1532-50G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.334-50G>A
  variant of: http://identifiers.org/hgnc/8547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

5-131530574-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530574
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530574
    reference: chr 5
allele count: 2
allele frequency: 1.654423929587718e-5
allele num: 120888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1531+45G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1531+45G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1537+45G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1537+45G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1531+45G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.333+45G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1537+45G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.416+45G>A
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/5-131530588-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530588
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530588
    reference: chr 5
allele count: 3
allele frequency: 2.477046040029064e-5
allele num: 121112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1537+31G>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1531+31G>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1537+31G>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.333+31G>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1537+31G>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1531+31G>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1531+31G>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.416+31G>T
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5753
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8788
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

5-131530591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530591
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530591
    reference: chr 5
allele count: 2
allele frequency: 1.650764303872693e-5
allele num: 121156
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1537+28G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.333+28G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1537+28G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1537+28G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1531+28G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1531+28G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.416+28G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1531+28G>A
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/5-131530592-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530592
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530592
    reference: chr 5
allele count: 2
allele frequency: 1.650301179965344e-5
allele num: 121190
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1537+27T>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1537+27T>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.333+27T>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1537+27T>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1531+27T>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1531+27T>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1531+27T>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.416+27T>G
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15892
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8829
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

5-131530599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530599
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530599
    reference: chr 5
allele count: 2
allele frequency: 1.649430121892886e-5
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1531+20G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1531+20G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1537+20G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.416+20G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.333+20G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1537+20G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1531+20G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1537+20G>A
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3650
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-131530602-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530602
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530602
    reference: chr 5
allele count: 3
allele frequency: 2.47390035129385e-5
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1531+17G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.333+17G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1537+17G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1537+17G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1531+17G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.416+17G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1531+17G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1537+17G>A
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3660
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

5-131530616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530616
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530616
    reference: chr 5
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1531+3G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.416+3G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1537+3G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1531+3G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.333+3G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1537+3G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1537+3G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1531+3G>A
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5746
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1537+3G>A
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: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

5-131530622-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530622
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530622
    reference: chr 5
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1534T>A
  hgvsp: ENSP00000166534.4:p.Trp512Arg
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1528T>A
  hgvsp: ENSP00000368394.2:p.Trp510Arg
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.330T>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1528T>A
  hgvsp: ENSP00000368379.1:p.Trp510Arg
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1534T>A
  hgvsp: ENSP00000368398.2:p.Trp512Arg
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.413T>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1534T>A
  hgvsp: ENSP00000384999.1:p.Trp512Arg
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1528T>A
  hgvsp: ENSP00000353772.3:p.Trp510Arg
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8894
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Trp512Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

5-131530644-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530644
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530644
    reference: chr 5
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1512C>T
  hgvsp: ENST00000166534.4:c.1512C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1512C>T
  hgvsp: ENST00000401867.1:c.1512C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.308C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1506C>T
  hgvsp: ENST00000379100.2:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1506C>T
  hgvsp: ENST00000379086.1:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.391C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1506C>T
  hgvsp: ENST00000360568.3:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1512C>T
  hgvsp: ENST00000379104.2:c.1512C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5742
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8898
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys504Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/5-131530645-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530645
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530645
    reference: chr 5
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1511G>T
  hgvsp: ENSP00000384999.1:p.Cys504Phe
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1505G>T
  hgvsp: ENSP00000368379.1:p.Cys502Phe
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1511G>T
  hgvsp: ENSP00000166534.4:p.Cys504Phe
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1505G>T
  hgvsp: ENSP00000353772.3:p.Cys502Phe
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1505G>T
  hgvsp: ENSP00000368394.2:p.Cys502Phe
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.307G>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1511G>T
  hgvsp: ENSP00000368398.2:p.Cys504Phe
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.390G>T
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3661
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys504Phe
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

5-131530652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530652
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530652
    reference: chr 5
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1504G>A
  hgvsp: ENSP00000368398.2:p.Ala502Thr
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1504G>A
  hgvsp: ENSP00000166534.4:p.Ala502Thr
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1498G>A
  hgvsp: ENSP00000368394.2:p.Ala500Thr
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1504G>A
  hgvsp: ENSP00000384999.1:p.Ala502Thr
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1498G>A
  hgvsp: ENSP00000368379.1:p.Ala500Thr
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1498G>A
  hgvsp: ENSP00000353772.3:p.Ala500Thr
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.300G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.383G>A
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5740
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala502Thr
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

5-131530663-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530663
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530663
    reference: chr 5
allele count: 10
allele frequency: 8.237775141689732e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1493G>C
  hgvsp: ENSP00000368398.2:p.Arg498Pro
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.289G>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1487G>C
  hgvsp: ENSP00000368379.1:p.Arg496Pro
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1487G>C
  hgvsp: ENSP00000368394.2:p.Arg496Pro
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1493G>C
  hgvsp: ENSP00000166534.4:p.Arg498Pro
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1493G>C
  hgvsp: ENSP00000384999.1:p.Arg498Pro
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.372G>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1487G>C
  hgvsp: ENSP00000353772.3:p.Arg496Pro
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8903
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg498Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

5-131530663-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530663
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530663
    reference: chr 5
allele count: 3
allele frequency: 2.47133254250692e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1487G>A
  hgvsp: ENSP00000353772.3:p.Arg496Gln
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1493G>A
  hgvsp: ENSP00000384999.1:p.Arg498Gln
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1493G>A
  hgvsp: ENSP00000166534.4:p.Arg498Gln
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1493G>A
  hgvsp: ENSP00000368398.2:p.Arg498Gln
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1487G>A
  hgvsp: ENSP00000368394.2:p.Arg496Gln
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1487G>A
  hgvsp: ENSP00000368379.1:p.Arg496Gln
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.289G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.372G>A
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg498Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

5-131530664-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530664
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530664
    reference: chr 5
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1486C>T
  hgvsp: ENSP00000368379.1:p.Arg496Ter
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.371C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1486C>T
  hgvsp: ENSP00000368394.2:p.Arg496Ter
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1492C>T
  hgvsp: ENSP00000368398.2:p.Arg498Ter
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1492C>T
  hgvsp: ENSP00000166534.4:p.Arg498Ter
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1492C>T
  hgvsp: ENSP00000384999.1:p.Arg498Ter
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.288C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1486C>T
  hgvsp: ENSP00000353772.3:p.Arg496Ter
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34490
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg498Ter
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

5-131530666-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530666
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530666
    reference: chr 5
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1484A>G
  hgvsp: ENSP00000368394.2:p.Tyr495Cys
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.286A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1490A>G
  hgvsp: ENSP00000384999.1:p.Tyr497Cys
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.369A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1484A>G
  hgvsp: ENSP00000353772.3:p.Tyr495Cys
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1490A>G
  hgvsp: ENSP00000368398.2:p.Tyr497Cys
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1490A>G
  hgvsp: ENSP00000166534.4:p.Tyr497Cys
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1484A>G
  hgvsp: ENSP00000368379.1:p.Tyr495Cys
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8914
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr497Cys
num of homozygotes: 1
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

5-131530677-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530677
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530677
    reference: chr 5
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.358G>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1473G>C
  hgvsp: ENST00000379100.2:c.1473G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1479G>C
  hgvsp: ENST00000379104.2:c.1479G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.275G>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1479G>C
  hgvsp: ENST00000166534.4:c.1479G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1479G>C
  hgvsp: ENST00000401867.1:c.1479G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1473G>C
  hgvsp: ENST00000379086.1:c.1473G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1473G>C
  hgvsp: ENST00000360568.3:c.1473G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5721
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly493Gly
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-131530678-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530678
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530678
    reference: chr 5
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.357G>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1478G>C
  hgvsp: ENSP00000166534.4:p.Gly493Ala
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1472G>C
  hgvsp: ENSP00000368394.2:p.Gly491Ala
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1472G>C
  hgvsp: ENSP00000368379.1:p.Gly491Ala
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.274G>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1472G>C
  hgvsp: ENSP00000353772.3:p.Gly491Ala
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1478G>C
  hgvsp: ENSP00000368398.2:p.Gly493Ala
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1478G>C
  hgvsp: ENSP00000384999.1:p.Gly493Ala
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34481
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly493Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

5-131530680-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530680
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530680
    reference: chr 5
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.355C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1470C>T
  hgvsp: ENST00000379086.1:c.1470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1476C>T
  hgvsp: ENST00000166534.4:c.1476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1476C>T
  hgvsp: ENST00000401867.1:c.1476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1476C>T
  hgvsp: ENST00000379104.2:c.1476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1470C>T
  hgvsp: ENST00000360568.3:c.1470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1470C>T
  hgvsp: ENST00000379100.2:c.1470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.272C>T
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8911
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser492Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

5-131530684-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530684
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530684
    reference: chr 5
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.351G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1472G>A
  hgvsp: ENSP00000166534.4:p.Arg491Gln
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1472G>A
  hgvsp: ENSP00000384999.1:p.Arg491Gln
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1472G>A
  hgvsp: ENSP00000368398.2:p.Arg491Gln
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1466G>A
  hgvsp: ENSP00000368379.1:p.Arg489Gln
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.268G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1466G>A
  hgvsp: ENSP00000368394.2:p.Arg489Gln
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1466G>A
  hgvsp: ENSP00000353772.3:p.Arg489Gln
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg491Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

5-131530685-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530685
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530685
    reference: chr 5
allele count: 6
allele frequency: 4.942909396470763e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1465C>T
  hgvsp: ENSP00000368394.2:p.Arg489Trp
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1465C>T
  hgvsp: ENSP00000368379.1:p.Arg489Trp
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1471C>T
  hgvsp: ENSP00000166534.4:p.Arg491Trp
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1471C>T
  hgvsp: ENSP00000384999.1:p.Arg491Trp
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1465C>T
  hgvsp: ENSP00000353772.3:p.Arg489Trp
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1471C>T
  hgvsp: ENSP00000368398.2:p.Arg491Trp
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.267C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.350C>T
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34482
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg491Trp
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

5-131530693-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530693
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530693
    reference: chr 5
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1457A>G
  hgvsp: ENSP00000353772.3:p.Asn486Ser
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1457A>G
  hgvsp: ENSP00000368394.2:p.Asn486Ser
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1463A>G
  hgvsp: ENSP00000166534.4:p.Asn488Ser
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1463A>G
  hgvsp: ENSP00000368398.2:p.Asn488Ser
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1457A>G
  hgvsp: ENSP00000368379.1:p.Asn486Ser
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1463A>G
  hgvsp: ENSP00000384999.1:p.Asn488Ser
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.342A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.259A>G
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5709
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34505
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn488Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

5-131530703-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530703
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530703
    reference: chr 5
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1447T>C
  hgvsp: ENSP00000368379.1:p.Phe483Leu
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1453T>C
  hgvsp: ENSP00000368398.2:p.Phe485Leu
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1453T>C
  hgvsp: ENSP00000384999.1:p.Phe485Leu
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1453T>C
  hgvsp: ENSP00000166534.4:p.Phe485Leu
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1447T>C
  hgvsp: ENSP00000353772.3:p.Phe483Leu
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1447T>C
  hgvsp: ENSP00000368394.2:p.Phe483Leu
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.249T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.332T>C
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8895
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe485Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/5-131530725-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530725
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530725
    reference: chr 5
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1435-10T>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.227T>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1441-10T>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.320-10T>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1435-10T>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1441-10T>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1441-10T>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1435-10T>G
  variant of: http://identifiers.org/hgnc/8547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

5-131530742-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530742
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530742
    reference: chr 5
allele count: 1
allele frequency: 8.301786544464368e-6
allele num: 120456
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1435-27T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1441-27T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.320-27T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1435-27T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1441-27T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1441-27T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.210T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1435-27T>C
  variant of: http://identifiers.org/hgnc/8547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13732
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

5-131530743-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530743
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530743
    reference: chr 5
allele count: 1
allele frequency: 8.305509875251242e-6
allele num: 120402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1441-28G>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1441-28G>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1435-28G>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1435-28G>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.320-28G>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.209G>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1435-28G>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1441-28G>C
  variant of: http://identifiers.org/hgnc/8547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5648
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

5-131530745-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530745
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530745
    reference: chr 5
allele count: 2
allele frequency: 1.661681621801263e-5
allele num: 120360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1441-30A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.320-30A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1435-30A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1435-30A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.207A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1435-30A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1441-30A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1441-30A>G
  variant of: http://identifiers.org/hgnc/8547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6788
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7631
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

5-131530754-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530754
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530754
    reference: chr 5
allele count: 23
allele frequency: 1.91730576858953e-4
allele num: 119960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.198C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1441-39C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1441-39C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1435-39C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.320-39C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1441-39C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1435-39C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1435-39C>T
  variant of: http://identifiers.org/hgnc/8547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10110
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18404
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9303
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5661
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3648
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

5-131530757-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131530757
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131530757
    reference: chr 5
allele count: 1
allele frequency: 8.354079296920687e-6
allele num: 119702
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1441-42A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1435-42A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1435-42A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1435-42A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1441-42A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000474628
  gene symbol: P4HA2
  hgvsc: ENST00000474628.1:n.195A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1441-42A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.320-42A>C
  variant of: http://identifiers.org/hgnc/8547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5639
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4426
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-131531054-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531054
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531054
    reference: chr 5
allele count: 1
allele frequency: 8.362043014349267e-6
allele num: 119588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1440+51C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1434+51C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.319+51C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1440+51C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1434+51C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1440+51C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1434+51C>T
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14230
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

5-131531055-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531055
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531055
    reference: chr 5
allele count: 1
allele frequency: 8.359666282122017e-6
allele num: 119622
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1440+50A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1434+50A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1440+50A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1434+50A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1440+50A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.319+50A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1434+50A>G
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8281
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

5-131531055-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531055
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531055
    reference: chr 5
allele count: 1
allele frequency: 8.359666282122017e-6
allele num: 119622
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1440+50A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1434+50A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.319+50A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1440+50A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1434+50A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1434+50A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1440+50A>C
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15982
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8087
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

5-131531060-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531060
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531060
    reference: chr 5
allele count: 1
allele frequency: 8.345294922722569e-6
allele num: 119828
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1440+45A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1440+45A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1440+45A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1434+45A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.319+45A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1434+45A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1434+45A>G
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23986
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

5-131531063-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531063
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531063
    reference: chr 5
allele count: 1
allele frequency: 8.34640937468701e-6
allele num: 119812
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1440+42C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1440+42C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1434+42C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1434+42C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1434+42C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.319+42C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1440+42C>T
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16731
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8077
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-131531066-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531066
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531066
    reference: chr 5
allele count: 1
allele frequency: 8.340840089413805e-6
allele num: 119892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1434+39G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1434+39G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1440+39G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1440+39G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.319+39G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1434+39G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1440+39G>A
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

5-131531075-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531075
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531075
    reference: chr 5
allele count: 2
allele frequency: 1.6628421297682e-5
allele num: 120276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1434+30T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1440+30T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1440+30T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1434+30T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.319+30T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1434+30T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1440+30T>C
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18039
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8083
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

5-131531078-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531078
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531078
    reference: chr 5
allele count: 1
allele frequency: 8.308546170591069e-6
allele num: 120358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1434+27G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1440+27G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1434+27G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.319+27G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1440+27G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1440+27G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1434+27G>A
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8082
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 2.25e1
  variant carriers: 0
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: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

5-131531081-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531081
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531081
    reference: chr 5
allele count: 3
allele frequency: 2.489585235099832e-5
allele num: 120502
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1434+24A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.319+24A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1440+24A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1440+24A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1434+24A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1440+24A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1434+24A>G
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

5-131531087-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531087
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531087
    reference: chr 5
allele count: 2
allele frequency: 1.656451880072884e-5
allele num: 120740
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.319+18T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1440+18T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1434+18T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1440+18T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1434+18T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1434+18T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1440+18T>C
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

5-131531097-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531097
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531097
    reference: chr 5
allele count: 98
allele frequency: 8.099441303844755e-4
allele num: 120996
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1440+8C>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1440+8C>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1434+8C>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1434+8C>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1440+8C>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1434+8C>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.319+8C>A
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 19105
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7459
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 22876
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1440+8C>A
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

5-131531099-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531099
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531099
    reference: chr 5
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1434+6T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.319+6T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1434+6T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1440+6T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1440+6T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1440+6T>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1434+6T>C
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8074
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1440+6T>C
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

5-131531100-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531100
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531100
    reference: chr 5
allele count: 2
allele frequency: 1.652291728627607e-5
allele num: 121044
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1440+5G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1434+5G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1434+5G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1434+5G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.319+5G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1440+5G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1440+5G>A
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8073
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  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: 923
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1440+5G>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

5-131531101-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531101
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531101
    reference: chr 5
allele count: 1
allele frequency: 8.260366760284156e-6
allele num: 121060
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1440+4A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1434+4A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1440+4A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1440+4A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.319+4A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1434+4A>C
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1434+4A>C
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8075
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1440+4A>C
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: T
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

5-131531112-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531112
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531112
    reference: chr 5
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1433C>T
  hgvsp: ENSP00000166534.4:p.Pro478Leu
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1427C>T
  hgvsp: ENSP00000368379.1:p.Pro476Leu
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1427C>T
  hgvsp: ENSP00000368394.2:p.Pro476Leu
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.312C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1433C>T
  hgvsp: ENSP00000368398.2:p.Pro478Leu
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1433C>T
  hgvsp: ENSP00000384999.1:p.Pro478Leu
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1427C>T
  hgvsp: ENSP00000353772.3:p.Pro476Leu
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8073
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro478Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

5-131531119-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531119
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531119
    reference: chr 5
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1420A>G
  hgvsp: ENSP00000353772.3:p.Ile474Val
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1426A>G
  hgvsp: ENSP00000384999.1:p.Ile476Val
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.305A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1426A>G
  hgvsp: ENSP00000368398.2:p.Ile476Val
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1426A>G
  hgvsp: ENSP00000166534.4:p.Ile476Val
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1420A>G
  hgvsp: ENSP00000368394.2:p.Ile474Val
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1420A>G
  hgvsp: ENSP00000368379.1:p.Ile474Val
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2433
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile476Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

5-131531137-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531137
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531137
    reference: chr 5
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1408C>G
  hgvsp: ENSP00000368398.2:p.Pro470Ala
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1402C>G
  hgvsp: ENSP00000368379.1:p.Pro468Ala
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1402C>G
  hgvsp: ENSP00000353772.3:p.Pro468Ala
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1402C>G
  hgvsp: ENSP00000368394.2:p.Pro468Ala
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1408C>G
  hgvsp: ENSP00000384999.1:p.Pro470Ala
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.287C>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1408C>G
  hgvsp: ENSP00000166534.4:p.Pro470Ala
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro470Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

5-131531143-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531143
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531143
    reference: chr 5
allele count: 6
allele frequency: 4.950903539896031e-5
allele num: 121190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1396G>A
  hgvsp: ENSP00000368394.2:p.Val466Ile
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.281G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1402G>A
  hgvsp: ENSP00000368398.2:p.Val468Ile
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1402G>A
  hgvsp: ENSP00000384999.1:p.Val468Ile
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1402G>A
  hgvsp: ENSP00000166534.4:p.Val468Ile
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1396G>A
  hgvsp: ENSP00000368379.1:p.Val466Ile
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1396G>A
  hgvsp: ENSP00000353772.3:p.Val466Ile
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35102
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val468Ile
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

5-131531144-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531144
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531144
    reference: chr 5
allele count: 2
allele frequency: 1.650491846570278e-5
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1395C>T
  hgvsp: ENST00000379086.1:c.1395C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1401C>T
  hgvsp: ENST00000379104.2:c.1401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1395C>T
  hgvsp: ENST00000379100.2:c.1395C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1395C>T
  hgvsp: ENST00000360568.3:c.1395C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1401C>T
  hgvsp: ENST00000401867.1:c.1401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1401C>T
  hgvsp: ENST00000166534.4:c.1401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.280C>T
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7521
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr467Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-131531146-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531146
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531146
    reference: chr 5
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1399A>G
  hgvsp: ENSP00000368398.2:p.Thr467Ala
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.278A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1393A>G
  hgvsp: ENSP00000368394.2:p.Thr465Ala
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1399A>G
  hgvsp: ENSP00000384999.1:p.Thr467Ala
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1399A>G
  hgvsp: ENSP00000166534.4:p.Thr467Ala
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1393A>G
  hgvsp: ENSP00000368379.1:p.Thr465Ala
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1393A>G
  hgvsp: ENSP00000353772.3:p.Thr465Ala
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr467Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

5-131531148-G-GCAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531148
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531151
    reference: chr 5
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: GCAC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1388_1390dupGTG
  hgvsp: ENSP00000368394.2:p.Gly463dup
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1388_1390dupGTG
  hgvsp: ENSP00000368379.1:p.Gly463dup
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1388_1390dupGTG
  hgvsp: ENSP00000353772.3:p.Gly463dup
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1394_1396dupGTG
  hgvsp: ENSP00000166534.4:p.Gly465dup
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.273_275dupGTG
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1394_1396dupGTG
  hgvsp: ENSP00000384999.1:p.Gly465dup
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1394_1396dupGTG
  hgvsp: ENSP00000368398.2:p.Gly465dup
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly465dup
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

5-131531151-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531151
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531151
    reference: chr 5
allele count: 1
allele frequency: 8.255729476256522e-6
allele num: 121128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1388G>A
  hgvsp: ENSP00000368379.1:p.Gly463Asp
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1388G>A
  hgvsp: ENSP00000368394.2:p.Gly463Asp
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1388G>A
  hgvsp: ENSP00000353772.3:p.Gly463Asp
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1394G>A
  hgvsp: ENSP00000384999.1:p.Gly465Asp
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1394G>A
  hgvsp: ENSP00000368398.2:p.Gly465Asp
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1394G>A
  hgvsp: ENSP00000166534.4:p.Gly465Asp
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.273G>A
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8070
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2980
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly465Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

5-131531152-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531152
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531152
    reference: chr 5
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1387G>A
  hgvsp: ENSP00000353772.3:p.Gly463Ser
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1393G>A
  hgvsp: ENSP00000384999.1:p.Gly465Ser
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1387G>A
  hgvsp: ENSP00000368379.1:p.Gly463Ser
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1387G>A
  hgvsp: ENSP00000368394.2:p.Gly463Ser
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1393G>A
  hgvsp: ENSP00000166534.4:p.Gly465Ser
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1393G>A
  hgvsp: ENSP00000368398.2:p.Gly465Ser
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.272G>A
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly465Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

5-131531157-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531157
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531157
    reference: chr 5
allele count: 2
allele frequency: 1.652046059044126e-5
allele num: 121062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.267C>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1382C>G
  hgvsp: ENSP00000368394.2:p.Ala461Gly
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1388C>G
  hgvsp: ENSP00000384999.1:p.Ala463Gly
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1388C>G
  hgvsp: ENSP00000368398.2:p.Ala463Gly
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1388C>G
  hgvsp: ENSP00000166534.4:p.Ala463Gly
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1382C>G
  hgvsp: ENSP00000353772.3:p.Ala461Gly
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1382C>G
  hgvsp: ENSP00000368379.1:p.Ala461Gly
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7491
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala463Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-131531169-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531169
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531169
    reference: chr 5
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1376G>T
  hgvsp: ENSP00000368398.2:p.Ser459Ile
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.255G>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1376G>T
  hgvsp: ENSP00000384999.1:p.Ser459Ile
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1370G>T
  hgvsp: ENSP00000353772.3:p.Ser457Ile
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1376G>T
  hgvsp: ENSP00000166534.4:p.Ser459Ile
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1370G>T
  hgvsp: ENSP00000368379.1:p.Ser457Ile
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1370G>T
  hgvsp: ENSP00000368394.2:p.Ser457Ile
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser459Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-131531209-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531209
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531209
    reference: chr 5
allele count: 1
allele frequency: 8.410146000134562e-6
allele num: 118904
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.215G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1372-36G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1366-36G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1372-36G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1372-36G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1366-36G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1366-36G>A
  variant of: http://identifiers.org/hgnc/8547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3334
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3739
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3746
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

5-131531214-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131531214
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131531214
    reference: chr 5
allele count: 40
allele frequency: 3.374217603293237e-4
allele num: 118546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1366-41C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072682
  ensembl transcript: ENST00000467587
  gene symbol: P4HA2
  hgvsc: ENST00000467587.1:n.210C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1372-41C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1366-41C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1372-41C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1366-41C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1372-41C>T
  variant of: http://identifiers.org/hgnc/8547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11821
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13050
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 11683
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4095
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4622
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3333
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP

5-131533861-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131533861
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131533861
    reference: chr 5
allele count: 3
allele frequency: 2.543666270985247e-5
allele num: 117940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1365+153C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1365+153C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1365+153C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1371+38C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1371+38C>T
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1371+38C>T
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16479
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4099
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6022
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-131533874-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131533874
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131533874
    reference: chr 5
allele count: 1
allele frequency: 8.389261744966442e-6
allele num: 119200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1371+25C>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1365+140C>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1371+25C>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1371+25C>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1365+140C>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1365+140C>A
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4116
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6491
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

5-131533877-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131533877
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131533877
    reference: chr 5
allele count: 1
allele frequency: 8.372544751251695e-6
allele num: 119438
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1371+22G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1371+22G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1365+137G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1365+137G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1371+22G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1365+137G>A
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6523
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ

5-131533879-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131533879
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131533879
    reference: chr 5
allele count: 1
allele frequency: 8.357849692431131e-6
allele num: 119648
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1365+135A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1365+135A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1371+20A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1371+20A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1365+135A>G
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1371+20A>G
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27999
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
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genotype quality: GenotypeQuality
  all individuals: 39170
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6618
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
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genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
  all individuals: 267
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-131533880-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131533880
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131533880
    reference: chr 5
allele count: 1
allele frequency: 8.354916868577158e-6
allele num: 119690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1365+134G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1365+134G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1365+134G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1371+19G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1371+19G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1371+19G>A
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-131533885-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131533885
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131533885
    reference: chr 5
allele count: 1
allele frequency: 8.325285557294615e-6
allele num: 120116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000166534
  ensembl transcript: ENST00000166534
  gene symbol: P4HA2
  hgvsc: ENST00000166534.4:c.1371+14G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000384999
  ensembl transcript: ENST00000401867
  gene symbol: P4HA2
  hgvsc: ENST00000401867.1:c.1371+14G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368394
  ensembl transcript: ENST00000379100
  gene symbol: P4HA2
  hgvsc: ENST00000379100.2:c.1365+129G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368379
  ensembl transcript: ENST00000379086
  gene symbol: P4HA2
  hgvsc: ENST00000379086.1:c.1365+129G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000368398
  ensembl transcript: ENST00000379104
  gene symbol: P4HA2
  hgvsc: ENST00000379104.2:c.1371+14G>A
  variant of: http://identifiers.org/hgnc/8547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072682
  ensembl protein: ENSP00000353772
  ensembl transcript: ENST00000360568
  gene symbol: P4HA2
  hgvsc: ENST00000360568.3:c.1365+129G>A
  variant of: http://identifiers.org/hgnc/8547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2250
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11256
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3854
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4248
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26994
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5150
bin: 6.75e1
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: 10402
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: 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: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.035e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.837567e6

VQSLOD
type: SiteQuality
SIO_000300: -9.429999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.924e1

GenotypeQuality
all individuals: 11261
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3854
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26993
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4247
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2655
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5147
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4227
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.018e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.142e0

DP
type: SiteQuality
SIO_000300: 2.837676e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.85e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 4.53e-1

FS
type: SiteQuality
SIO_000300: 3.611e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 3854
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2249
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4248
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11256
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2654
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5146
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26994
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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: 10402
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: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.246e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.837445e6

QD
type: SiteQuality
SIO_000300: 1.088e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: -2.66e-1

FS
type: SiteQuality
SIO_000300: 1.134e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

GenotypeQuality
all individuals: 5142
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4227
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26995
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3854
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11248
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2249
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4246
bin: 7.75e1
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: 10402
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997242536866083e-5
allele num: 66728
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: 1.445e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

DP
type: SiteQuality
SIO_000300: 2.837502e6

VQSLOD
type: SiteQuality
SIO_000300: 5.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

GenotypeQuality
all individuals: 26994
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4246
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11251
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5143
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2654
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2249
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3852
bin: 9.25e1
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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
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: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.82e-1

QD
type: SiteQuality
SIO_000300: 7.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.805e0

DP
type: SiteQuality
SIO_000300: 2.837316e6

VQSLOD
type: SiteQuality
SIO_000300: -1.573e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.653e0

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
all individuals: 2252
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3854
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2625
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4230
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4213
bin: 8.25e1
variant carriers: 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: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
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: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.832916e6

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 1.424e0

VQSLOD
type: SiteQuality
SIO_000300: 5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.132e0

QD
type: SiteQuality
SIO_000300: 1.558e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 15

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3848
bin: 9.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 15
allele frequency: 9.097525473071324e-4
allele num: 16488
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 4.355e0

DP
type: SiteQuality
SIO_000300: 2.827931e6

QD
type: SiteQuality
SIO_000300: 1.45e1

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 145
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9907
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26992
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 3
allele frequency: 2.884060757546626e-4
allele num: 10402
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

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: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.95e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.564e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e-1

DP
type: SiteQuality
SIO_000300: 2.82577e6

FS
type: SiteQuality
SIO_000300: 7.503e0

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

GenotypeQuality
all individuals: 503
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 3841
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 8248
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
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: 10392
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.873e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

QD
type: SiteQuality
SIO_000300: 1.522e1

FS
type: SiteQuality
SIO_000300: 6.454e0

DP
type: SiteQuality
SIO_000300: 2.813598e6

VQSLOD
type: SiteQuality
SIO_000300: -1.248e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.65e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 7.074e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.317e0

VQSLOD
type: SiteQuality
SIO_000300: 7.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.21e-1

DP
type: SiteQuality
SIO_000300: 2.80875e6

QD
type: SiteQuality
SIO_000300: 1.356e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 2
allele frequency: 3.003093185981561e-5
allele num: 66598
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: 5.985e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.593e0

VQSLOD
type: SiteQuality
SIO_000300: 8.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

FS
type: SiteQuality
SIO_000300: 7.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

QD
type: SiteQuality
SIO_000300: 1.509e1

DP
type: SiteQuality
SIO_000300: 1.920077e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1036
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.467406380027739e-4
allele num: 8652
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.23e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
SIO_000300: 5.99e-1

DP
type: SiteQuality
SIO_000300: 1.93079e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 6.845e0

QD
type: SiteQuality
SIO_000300: 1.308e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8818
bin: 6.75e1
variant carriers: 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

African
type: Population
allele count: 2
allele frequency: 1.92270717169775e-4
allele num: 10402
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.65e-1

FS
type: SiteQuality
SIO_000300: 1.345e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.497e0

DP
type: SiteQuality
SIO_000300: 1.93225e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

GenotypeQuality
all individuals: 5751
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 1040
bin: 8.75e1
variant carriers: 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: 8652
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.221001221001221e-4
allele num: 16380
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.59e-1

DP
type: SiteQuality
SIO_000300: 1.932235e6

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

FS
type: SiteQuality
SIO_000300: 7.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

QD
type: SiteQuality
SIO_000300: 1.262e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.93553e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.142e1

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-1

FS
type: SiteQuality
SIO_000300: 1.513e0

BaseQRankSum
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SIO_000300: -2.04e0

VQSLOD
type: SiteQuality
SIO_000300: 9.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16444
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: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499505054444011e-5
allele num: 66674
num of homozygotes: 1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.210000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.329e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.936412e6

GenotypeQuality
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variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 6.6e-1

BaseQRankSum
type: SiteQuality
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FS
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.938171e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

QD
type: SiteQuality
SIO_000300: 1.088e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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East Asian
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MQRankSum
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FS
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MQ
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ClippingRankSum
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DP
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66728
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Latino
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Other
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East Asian
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European (Finnish)
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African
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South Asian
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MQ
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ReadPosRankSum
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BaseQRankSum
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DP
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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QD
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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BaseQRankSum
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DP
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MQ
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ReadPosRankSum
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MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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Latino
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Other
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African
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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InbreedingCoeff
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DP
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

Latino
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Other
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African
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East Asian
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European (Non-Finnish)
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South Asian
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DP
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ClippingRankSum
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BaseQRankSum
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MQ
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MQRankSum
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FS
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QD
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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South Asian
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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DP
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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ReadPosRankSum
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FS
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MQ
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DP
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ClippingRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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South Asian
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European (Non-Finnish)
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FS
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InbreedingCoeff
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DP
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ClippingRankSum
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VQSLOD
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QD
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MQ
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

East Asian
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FS
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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VQSLOD
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QD
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MQ
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BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

FS
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QD
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10404
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 16510
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

South Asian
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allele num: 16510
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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VQSLOD
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QD
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MQ
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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DP
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.6e-1

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

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

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

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

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

VQSLOD
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MQ
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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DP
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66708
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Other
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Latino
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East Asian
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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MQ
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10388
num of homozygotes: 0

Latino
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European (Non-Finnish)
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European (Finnish)
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East Asian
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South Asian
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Other
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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MQ
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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Other
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East Asian
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European (Finnish)
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African
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South Asian
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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ClippingRankSum
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DP
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ReadPosRankSum
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Latino
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Other
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African
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DP
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5648
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2633
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-5
allele num: 66140
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

DP
type: SiteQuality
SIO_000300: 1.81294e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 3.306e0

VQSLOD
type: SiteQuality
SIO_000300: -3.582e-1

QD
type: SiteQuality
SIO_000300: 1.578e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.463e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

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

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

GenotypeQuality
all individuals: 3511
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2350
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2943
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6511
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 9
allele frequency: 8.700696055684454e-4
allele num: 10344
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.999125109361329e-4
allele num: 11430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.103322712790169e-5
allele num: 65910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

QD
type: SiteQuality
SIO_000300: 1.35e1

VQSLOD
type: SiteQuality
SIO_000300: 5.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

DP
type: SiteQuality
SIO_000300: 1.713274e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.652e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

GenotypeQuality
all individuals: 122
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1326
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1859
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2925
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2420
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3205
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3107
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3847
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2333
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
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: 65794
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.140997297961189e-5
allele num: 16284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.858e1

QD
type: SiteQuality
SIO_000300: 1.148e1

DP
type: SiteQuality
SIO_000300: 1.680885e6

VQSLOD
type: SiteQuality
SIO_000300: -3.954e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.102e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 183
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3724
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3306
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19330
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2119
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6915
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variant carriers: 0

GenotypeQuality
all individuals: 8095
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variant carriers: 1

GenotypeQuality
all individuals: 1519
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3164
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.856100926473487e-5
allele num: 10146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.083e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.006e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.75e0

DP
type: SiteQuality
SIO_000300: 1.760706e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e-1

GenotypeQuality
all individuals: 977
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1495
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20281
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8087
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1303
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2079
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3606
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2253
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65920
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: 1
allele frequency: 6.13421666053245e-5
allele num: 16302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

DP
type: SiteQuality
SIO_000300: 1.762066e6

QD
type: SiteQuality
SIO_000300: 1.411e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

GenotypeQuality
all individuals: 2429
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20281
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 174
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6863
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variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3606
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3336
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.824567596187787e-5
allele num: 11332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65920
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.762066e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
SIO_000300: 1.411e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2411
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8080
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6929
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1440
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3054
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.858044164037855e-5
allele num: 10144
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66006
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

VQSLOD
type: SiteQuality
SIO_000300: -2.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.151e0

QD
type: SiteQuality
SIO_000300: 1.091e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.775354e6

GenotypeQuality
all individuals: 1011
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7026
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2383
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 2967
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515013786625458e-5
allele num: 66006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.31e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
type: SiteQuality
SIO_000300: -1.142e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-1

DP
type: SiteQuality
SIO_000300: 1.789468e6

VQSLOD
type: SiteQuality
SIO_000300: -1.172e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.308e0

GenotypeQuality
all individuals: 926
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8072
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variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2377
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.850275807722617e-5
allele num: 10152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.07e-1

DP
type: SiteQuality
SIO_000300: 1.802687e6

MQRankSum
type: SiteQuality
SIO_000300: -1.172e0

FS
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.822e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

QD
type: SiteQuality
SIO_000300: 1.479e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

GenotypeQuality
all individuals: 609
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 927
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2983
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32696
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.019779556092405e-5
allele num: 66230
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
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SIO_000300: 1.42e0

InbreedingCoeff
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SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.07e-1

DP
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.777e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.17e-2

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 6.099048548426445e-5
allele num: 16396
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6558
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66272
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 2.06e0

ClippingRankSum
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SIO_000300: -1.523e0

MQRankSum
type: SiteQuality
SIO_000300: -1.284e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
allele num: 10222
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Latino
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allele count: 3
allele frequency: 2.626510243389949e-4
allele num: 11422
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16414
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66360
num of homozygotes: 0

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

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

QD
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SIO_000300: 1.424e1

DP
type: SiteQuality
SIO_000300: 1.84594e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
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South Asian
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allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
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allele frequency: 1.950078003120125e-4
allele num: 10256
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East Asian
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allele frequency: 0.0e0
allele num: 8640
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.854625e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.41e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.859e0

QD
type: SiteQuality
SIO_000300: 1.104e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.76e0

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.505451596431682e-5
allele num: 66586
num of homozygotes: 0

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

Latino
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allele count: 11
allele frequency: 9.576876197109525e-4
allele num: 11486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
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African
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allele count: 84
allele frequency: 8.150591888220454e-3
allele num: 10306
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
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: 7.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.8634e6

QD
type: SiteQuality
SIO_000300: 1.295e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 906
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16476
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
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African
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allele count: 1
allele frequency: 9.695559433779329e-5
allele num: 10314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66602
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.199e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.002642325246217e-5
allele num: 66608
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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East Asian
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South Asian
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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MQ
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QD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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allele num: 66614
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Latino
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Other
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East Asian
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African
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European (Finnish)
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allele frequency: 1.517450682852807e-4
allele num: 6590
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QD
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ClippingRankSum
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MQ
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DP
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8654
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African
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Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Other
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VQSLOD
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MQRankSum
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BaseQRankSum
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QD
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FS
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MQ
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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African
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Latino
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East Asian
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European (Non-Finnish)
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Other
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QD
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FS
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MQ
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ClippingRankSum
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ReadPosRankSum
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DP
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8071
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
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: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

FS
type: SiteQuality
SIO_000300: 5.777e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.935e0

DP
type: SiteQuality
SIO_000300: 1.865962e6

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

QD
type: SiteQuality
SIO_000300: 1.91e0

GenotypeQuality
all individuals: 7525
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 8076
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variant carriers: 6

GenotypeQuality
all individuals: 919
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 6
allele frequency: 5.197505197505198e-4
allele num: 11544
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: 66648
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.46e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

FS
type: SiteQuality
SIO_000300: 2.36e0

DP
type: SiteQuality
SIO_000300: 1.865947e6

MQRankSum
type: SiteQuality
SIO_000300: 4.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.59e-1

QD
type: SiteQuality
SIO_000300: 8.710000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
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

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: 16492
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.932740626207963e-4
allele num: 10348
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: 8.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.65e-1

FS
type: SiteQuality
SIO_000300: 1.753e0

MQRankSum
type: SiteQuality
SIO_000300: 5.87e-1

QD
type: SiteQuality
SIO_000300: 1.697e1

DP
type: SiteQuality
SIO_000300: 1.865717e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 2418
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
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: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.865428e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.77e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.87e-1

FS
type: SiteQuality
SIO_000300: 1.853e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.156e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.08e-1

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2983
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
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: 16494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.48e-1

FS
type: SiteQuality
SIO_000300: 3.236e0

MQ
type: SiteQuality
SIO_000300: 5.793e1

QD
type: SiteQuality
SIO_000300: 1.161e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

DP
type: SiteQuality
SIO_000300: 1.865137e6

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 7507
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
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: 11540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
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: -4.19e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.305e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

QD
type: SiteQuality
SIO_000300: 7.94e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 1.864449e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1999
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
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: 16488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
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: 6590
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.778e0

VQSLOD
type: SiteQuality
SIO_000300: -2.991e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.903e0

QD
type: SiteQuality
SIO_000300: 3.404e1

MQ
type: SiteQuality
SIO_000300: 5.989e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.29e-1

DP
type: SiteQuality
SIO_000300: 1.864469e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.312673450508788e-4
allele num: 8648
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: 11524
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: 3.9e-3

QD
type: SiteQuality
SIO_000300: 1.075e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.459e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

DP
type: SiteQuality
SIO_000300: 1.863296e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.56e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 10276
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
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MQ
type: SiteQuality
SIO_000300: 5.907e1

FS
type: SiteQuality
SIO_000300: 3.273e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.857942e6

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65544
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.292e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.675e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.485e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.341e-1

DP
type: SiteQuality
SIO_000300: 1.717325e6

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 40

GenotypeQuality
all individuals: 2653
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1239
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 5
allele frequency: 5.001000200040008e-4
allele num: 9998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 29
allele frequency: 4.436964504283966e-4
allele num: 65360
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.362888809438684e-4
allele num: 11188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

QD
type: SiteQuality
SIO_000300: 1.274e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.236e0

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.136e0

DP
type: SiteQuality
SIO_000300: 1.688056e6

GenotypeQuality
all individuals: 2376
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32338
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1976
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.861042183622829e-4
allele num: 16120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

QD
type: SiteQuality
SIO_000300: 1.156e1

DP
type: SiteQuality
SIO_000300: 1.603242e6

VQSLOD
type: SiteQuality
SIO_000300: -8.657e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.641e0

FS
type: SiteQuality
SIO_000300: 1.0035e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.004e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.87e-1

GenotypeQuality
all individuals: 302
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1938
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65624
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.729050279329609e-5
allele num: 11456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.661234e6

QD
type: SiteQuality
SIO_000300: 1.596e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.278e0

GenotypeQuality
all individuals: 1346
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2062
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38049
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4117
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 474
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520912547528517e-5
allele num: 65750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 1.671391e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.182e0

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.865e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.4e-2

FS
type: SiteQuality
SIO_000300: 9.192e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

QD
type: SiteQuality
SIO_000300: 1.072e1

MQ
type: SiteQuality
SIO_000300: 5.921e1

GenotypeQuality
all individuals: 162
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1986
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variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518556763651825e-5
allele num: 65852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.836e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

DP
type: SiteQuality
SIO_000300: 1.676483e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 1.257e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1354
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51828009231143e-5
allele num: 65864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.899e1

VQSLOD
type: SiteQuality
SIO_000300: 8.81e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.416e0

DP
type: SiteQuality
SIO_000300: 1.680239e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.54e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 7.75e1
variant carriers: 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: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66110
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.103515625e-5
allele num: 16384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0