3-49039980-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49039980
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49039980
    reference: chr 3
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1216G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.675G>A
  hgvsp: ENST00000383729.4:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.51G>A
  hgvsp: ENST00000472796.2:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.203G>A
  hgvsp: ENST00000491739.1:c.203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.463G>A
  hgvsp: ENST00000444213.1:c.463G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000486817
  gene symbol: P4HTM
  hgvsc: ENST00000486817.1:n.528G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.604G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1024G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.675G>A
  hgvsp: ENST00000343546.4:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.549G>A
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu225Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

3-49039982-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49039982
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49039982
    reference: chr 3
allele count: 106
allele frequency: 8.734200161500305e-4
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.606G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.677G>A
  hgvsp: ENSP00000373235.4:p.Ser226Asn
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.205G>A
  hgvsp: ENSP00000476303.1:p.Ser69Asn
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.465G>A
  hgvsp: ENSP00000398554.1:p.Ser156Asn
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1026G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.53G>A
  hgvsp: ENSP00000476858.1:p.Ser18Asn
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1218G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.551G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000486817
  gene symbol: P4HTM
  hgvsc: ENST00000486817.1:n.530G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.677G>A
  hgvsp: ENSP00000341422.4:p.Ser226Asn
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14889
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 9.75e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser226Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

3-49039984-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49039984
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49039984
    reference: chr 3
allele count: 741
allele frequency: 6.105499068931991e-3
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.207A>G
  hgvsp: ENSP00000476303.1:p.Ile70Val
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.467A>G
  hgvsp: ENSP00000398554.1:p.Ile157Val
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.679A>G
  hgvsp: ENSP00000373235.4:p.Ile227Val
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1028A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.608A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.679A>G
  hgvsp: ENSP00000341422.4:p.Ile227Val
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.553A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000486817
  gene symbol: P4HTM
  hgvsc: ENST00000486817.1:n.532A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.55A>G
  hgvsp: ENSP00000476858.1:p.Ile19Val
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1220A>G
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14901
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29744
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 606
genotype depth: GenotypeDepth
  all individuals: 11597
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 728
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile227Val
num of homozygotes: 12
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

3-49039988-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49039988
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49039988
    reference: chr 3
allele count: 5
allele frequency: 4.119837843182493e-5
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.557A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000486817
  gene symbol: P4HTM
  hgvsc: ENST00000486817.1:n.536A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.211A>G
  hgvsp: ENSP00000476303.1:p.Gln71Arg
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.683A>G
  hgvsp: ENSP00000373235.4:p.Gln228Arg
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.683A>G
  hgvsp: ENSP00000341422.4:p.Gln228Arg
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.612A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.59A>G
  hgvsp: ENSP00000476858.1:p.Gln20Arg
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1224A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1032A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.471A>G
  hgvsp: ENSP00000398554.1:p.Gln158Arg
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln228Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

3-49039994-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49039994
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49039994
    reference: chr 3
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.477T>C
  hgvsp: ENSP00000398554.1:p.Met160Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.217T>C
  hgvsp: ENSP00000476303.1:p.Met73Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.563T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.65T>C
  hgvsp: ENSP00000476858.1:p.Met22Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000486817
  gene symbol: P4HTM
  hgvsc: ENST00000486817.1:n.542T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.689T>C
  hgvsp: ENSP00000341422.4:p.Met230Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1230T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.689T>C
  hgvsp: ENSP00000373235.4:p.Met230Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1038T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.618T>C
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met230Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/3-49039997-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49039997
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49039997
    reference: chr 3
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1233A>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000486817
  gene symbol: P4HTM
  hgvsc: ENST00000486817.1:n.545A>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.692A>C
  hgvsp: ENSP00000341422.4:p.Tyr231Ser
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.480A>C
  hgvsp: ENSP00000398554.1:p.Tyr161Ser
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.692A>C
  hgvsp: ENSP00000373235.4:p.Tyr231Ser
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1041A>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.220A>C
  hgvsp: ENSP00000476303.1:p.Tyr74Ser
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.68A>C
  hgvsp: ENSP00000476858.1:p.Tyr23Ser
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.621A>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.566A>C
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11678
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr231Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

3-49039998-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49039998
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49039998
    reference: chr 3
allele count: 4
allele frequency: 3.296033224014898e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000486817
  gene symbol: P4HTM
  hgvsc: ENST00000486817.1:n.546C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.622C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.693C>T
  hgvsp: ENST00000343546.4:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.221C>T
  hgvsp: ENST00000491739.1:c.221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.693C>T
  hgvsp: ENST00000383729.4:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1234C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.69C>T
  hgvsp: ENST00000472796.2:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.567C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.481C>T
  hgvsp: ENST00000444213.1:c.481C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1042C>T
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr231Tyr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

3-49040001-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040001
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040001
    reference: chr 3
allele count: 5
allele frequency: 4.120041530018623e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.696C>T
  hgvsp: ENST00000343546.4:c.696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.625C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.72C>T
  hgvsp: ENST00000472796.2:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.484C>T
  hgvsp: ENST00000444213.1:c.484C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000486817
  gene symbol: P4HTM
  hgvsc: ENST00000486817.1:n.549C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1045C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.696C>T
  hgvsp: ENST00000383729.4:c.696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.224C>T
  hgvsp: ENST00000491739.1:c.224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1237C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.570C>T
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala232Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

3-49040002-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040002
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040002
    reference: chr 3
allele count: 19
allele frequency: 1.565589980224127e-4
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000486817
  gene symbol: P4HTM
  hgvsc: ENST00000486817.1:n.550G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.225G>A
  hgvsp: ENSP00000476303.1:p.Ala76Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.485G>A
  hgvsp: ENSP00000398554.1:p.Ala163Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.697G>A
  hgvsp: ENSP00000373235.4:p.Ala233Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1238G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.626G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.697G>A
  hgvsp: ENSP00000341422.4:p.Ala233Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.73G>A
  hgvsp: ENSP00000476858.1:p.Ala25Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.571G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1046G>A
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15090
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala233Thr
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

3-49040003-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040003
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040003
    reference: chr 3
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.226C>G
  hgvsp: ENSP00000476303.1:p.Ala76Gly
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.698C>G
  hgvsp: ENSP00000341422.4:p.Ala233Gly
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.486C>G
  hgvsp: ENSP00000398554.1:p.Ala163Gly
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.74C>G
  hgvsp: ENSP00000476858.1:p.Ala25Gly
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.572C>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1047C>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.627C>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1239C>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.698C>G
  hgvsp: ENSP00000373235.4:p.Ala233Gly
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000486817
  gene symbol: P4HTM
  hgvsc: ENST00000486817.1:n.551C>G
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala233Gly
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

3-49040004-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040004
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040004
    reference: chr 3
allele count: 6
allele frequency: 4.944131316127757e-5
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1048G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.75G>A
  hgvsp: ENST00000472796.2:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1240G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.227G>A
  hgvsp: ENST00000491739.1:c.227G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.487G>A
  hgvsp: ENST00000444213.1:c.487G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.699G>A
  hgvsp: ENST00000383729.4:c.699G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000486817
  gene symbol: P4HTM
  hgvsc: ENST00000486817.1:n.552G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.699G>A
  hgvsp: ENST00000343546.4:c.699G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.628G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.573G>A
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8629
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala233Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

3-49040013-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040013
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040013
    reference: chr 3
allele count: 2
allele frequency: 1.648505629646725e-5
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000486817
  gene symbol: P4HTM
  hgvsc: ENST00000486817.1:n.561T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.708T>C
  hgvsp: ENST00000383729.4:c.708T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.496T>C
  hgvsp: ENST00000444213.1:c.496T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.84T>C
  hgvsp: ENST00000472796.2:c.84T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.637T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.236T>C
  hgvsp: ENST00000491739.1:c.236T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.708T>C
  hgvsp: ENST00000343546.4:c.708T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.582T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1249T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1057T>C
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala236Ala
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

3-49040019-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040019
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040019
    reference: chr 3
allele count: 7
allele frequency: 5.771196781321109e-5
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1063T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.502T>C
  hgvsp: ENST00000444213.1:c.502T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.714T>C
  hgvsp: ENST00000383729.4:c.714T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1255T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.90T>C
  hgvsp: ENST00000472796.2:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.588T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.242T>C
  hgvsp: ENST00000491739.1:c.242T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000486817
  gene symbol: P4HTM
  hgvsc: ENST00000486817.1:n.567T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.714T>C
  hgvsp: ENST00000343546.4:c.714T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.643T>C
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15090
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro238Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-49040019-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040019
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040019
    reference: chr 3
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.714T>G
  hgvsp: ENST00000383729.4:c.714T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1063T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.643T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.242T>G
  hgvsp: ENST00000491739.1:c.242T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.714T>G
  hgvsp: ENST00000343546.4:c.714T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1255T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.502T>G
  hgvsp: ENST00000444213.1:c.502T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000486817
  gene symbol: P4HTM
  hgvsc: ENST00000486817.1:n.567T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.588T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.90T>G
  hgvsp: ENST00000472796.2:c.90T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro238Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

3-49040022-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040022
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040022
    reference: chr 3
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.646T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000486817
  gene symbol: P4HTM
  hgvsc: ENST00000486817.1:n.570T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.93T>C
  hgvsp: ENST00000472796.2:c.93T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1258T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.505T>C
  hgvsp: ENST00000444213.1:c.505T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.717T>C
  hgvsp: ENST00000383729.4:c.717T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.245T>C
  hgvsp: ENST00000491739.1:c.245T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.717T>C
  hgvsp: ENST00000343546.4:c.717T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1066T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.591T>C
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp239Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

3-49040026-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040026
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040026
    reference: chr 3
allele count: 2
allele frequency: 1.649076517150396e-5
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.721G>A
  hgvsp: ENSP00000341422.4:p.Asp241Asn
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000486817
  gene symbol: P4HTM
  hgvsc: ENST00000486817.1:n.574G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.509G>A
  hgvsp: ENSP00000398554.1:p.Asp171Asn
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.721G>A
  hgvsp: ENSP00000373235.4:p.Asp241Asn
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1262G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.249G>A
  hgvsp: ENSP00000476303.1:p.Asp84Asn
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.595G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.650G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1070G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.97G>A
  hgvsp: ENSP00000476858.1:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8617
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp241Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD

3-49040028-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040028
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040028
    reference: chr 3
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1264C>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.99C>G
  hgvsp: ENSP00000476858.1:p.Asp33Glu
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.652C>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1072C>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.723C>G
  hgvsp: ENSP00000373235.4:p.Asp241Glu
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.511C>G
  hgvsp: ENSP00000398554.1:p.Asp171Glu
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.251C>G
  hgvsp: ENSP00000476303.1:p.Asp84Glu
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.723C>G
  hgvsp: ENSP00000341422.4:p.Asp241Glu
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.597C>G
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp241Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

3-49040028-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040028
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040028
    reference: chr 3
allele count: 5
allele frequency: 4.123031252576895e-5
allele num: 121270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.511C>T
  hgvsp: ENST00000444213.1:c.511C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.251C>T
  hgvsp: ENST00000491739.1:c.251C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.597C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.99C>T
  hgvsp: ENST00000472796.2:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1072C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.723C>T
  hgvsp: ENST00000383729.4:c.723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1264C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.652C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.723C>T
  hgvsp: ENST00000343546.4:c.723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: c.723C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

3-49040032-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040032
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040032
    reference: chr 3
allele count: 7
allele frequency: 5.773767300681305e-5
allele num: 121238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+3G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.656G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+3G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+3G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+3G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+3G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1268G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+3G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+3G>A
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
hgvs: c.724+3G>A
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

3-49040033-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040033
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040033
    reference: chr 3
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+4A>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+4A>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+4A>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+4A>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.657A>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+4A>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1269A>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+4A>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+4A>T
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8607
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
hgvs: c.724+4A>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

3-49040042-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040042
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040042
    reference: chr 3
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1278C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+13C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.666C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+13C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+13C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+13C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+13C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+13C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+13C>T
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP

3-49040053-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040053
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040053
    reference: chr 3
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+24C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+24C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.677C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+24C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1289C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+24C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+24C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+24C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+24C>T
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

3-49040062-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040062
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040062
    reference: chr 3
allele count: 3
allele frequency: 2.489419965148121e-5
allele num: 120510
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+33G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+33G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+33G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+33G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+33G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1298G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.686G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+33G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+33G>A
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8411
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

3-49040066-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040066
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040066
    reference: chr 3
allele count: 2
allele frequency: 1.663782776520698e-5
allele num: 120208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+37G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+37G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.690G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1302G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+37G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+37G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+37G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+37G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+37G>A
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14524
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-49040067-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040067
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040067
    reference: chr 3
allele count: 1
allele frequency: 8.326533331112925e-6
allele num: 120098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+38C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+38C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+38C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.691C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+38C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+38C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1303C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+38C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+38C>A
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14472
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8291
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ

3-49040070-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040070
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040070
    reference: chr 3
allele count: 1
allele frequency: 8.372124175345769e-6
allele num: 119444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.694C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+41C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+41C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+41C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+41C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1306C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+41C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+41C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+41C>T
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14034
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

3-49040071-CTGCCCACTCCCAGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040071
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040057
    reference: chr 3
allele count: 1
allele frequency: 8.372404554588077e-6
allele num: 119440
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: CTGCCCACTCCCAGG
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

3-49040075-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040075
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040075
    reference: chr 3
allele count: 1
allele frequency: 8.464390309965973e-6
allele num: 118142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+46C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+46C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+46C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+46C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+46C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+46C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1311C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+46C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.699C>T
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28749
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

3-49040082-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040082
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040082
    reference: chr 3
allele count: 1
allele frequency: 8.690815546130848e-6
allele num: 115064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+53C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+53C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+53C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1318C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+53C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.706C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+53C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+53C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+53C>T
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-49040086-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040086
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040086
    reference: chr 3
allele count: 1
allele frequency: 8.979723783696414e-6
allele num: 111362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+57T>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+57T>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1322T>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+57T>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+57T>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+57T>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+57T>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.710T>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+57T>A
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

3-49040090-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040090
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040090
    reference: chr 3
allele count: 2
allele frequency: 1.818578598967047e-5
allele num: 109976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+61C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+61C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+61C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.714C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+61C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+61C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+61C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1326C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+61C>T
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24174
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5665
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum

3-49040095-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040095
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040095
    reference: chr 3
allele count: 14
allele frequency: 1.340277245921728e-4
allele num: 104456
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+66T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.719T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+66T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+66T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+66T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+66T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1331T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+66T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+66T>C
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20339
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7385
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9973
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

3-49040102-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040102
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040102
    reference: chr 3
allele count: 1
allele frequency: 1.048086194608645e-5
allele num: 95412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.726C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1338C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+73C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+73C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+73C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+73C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+73C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+73C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+73C>T
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14485
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23864
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23041
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

3-49040102-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040102
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040101
    reference: chr 3
allele count: 1
allele frequency: 1.048086194608645e-5
allele num: 95412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+75delT
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.728delT
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+75delT
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+75delT
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+75delT
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+75delT
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+75delT
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+75delT
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1340delT
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: CT
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

3-49040104-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040104
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040104
    reference: chr 3
allele count: 1
allele frequency: 1.060063179765514e-5
allele num: 94334
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+75T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+75T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+75T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.728T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1340T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+75T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+75T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+75T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+75T>G
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23830
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-49040107-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040107
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040107
    reference: chr 3
allele count: 1
allele frequency: 1.101976946642276e-5
allele num: 90746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+78G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+78G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+78G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+78G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1343G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+78G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.731G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+78G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+78G>A
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25835
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

3-49040110-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040110
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040110
    reference: chr 3
allele count: 4
allele frequency: 4.609038324153665e-5
allele num: 86786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+81C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.734C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+81C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+81C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+81C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1346C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+81C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+81C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+81C>T
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10304
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-49040114-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040114
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040114
    reference: chr 3
allele count: 1
allele frequency: 1.223391240518718e-5
allele num: 81740
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+85C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+85C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+85C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+85C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+85C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.738C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1350C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+85C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+85C>A
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

3-49040114-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040114
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040114
    reference: chr 3
allele count: 874
allele frequency: 1.06924394421336e-2
allele num: 81740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+85C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+85C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1350C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+85C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+85C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+85C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.738C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+85C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+85C>T
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 3.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 8389
  bin: 2.25e1
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 1.75e1
  variant carriers: 235
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17829
  bin: 1.25e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 16202
  bin: 7.5e0
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 2.75e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 9.75e1
  variant carriers: 846
genotype quality: GenotypeQuality
  all individuals: 30056
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.75e1
  variant carriers: 2
num of homozygotes: 5
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/3-49040117-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040117
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040117
    reference: chr 3
allele count: 4
allele frequency: 5.427702996092054e-5
allele num: 73696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.741C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1353C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+88C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+88C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+88C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+88C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+88C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+88C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+88C>A
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32392
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/3-49040118-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040118
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040118
    reference: chr 3
allele count: 1
allele frequency: 1.360174102285093e-5
allele num: 73520
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+89A>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+89A>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+89A>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1354A>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+89A>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.742A>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+89A>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+89A>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+89A>C
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-49040142-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040142
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040142
    reference: chr 3
allele count: 1
allele frequency: 2.181310531367245e-5
allele num: 45844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+113C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+113C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.766C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+113C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+113C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+113C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1378C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+113C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+113C>A
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29500
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14969
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

3-49040142-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040142
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040142
    reference: chr 3
allele count: 9
allele frequency: 1.963179478230521e-4
allele num: 45844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1378C>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+113C>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.766C>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+113C>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+113C>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+113C>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+113C>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+113C>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+113C>G
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13630
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14969
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.75e1
  variant carriers: 9
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

3-49040148-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040148
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040148
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 39434
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+119T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+119T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+119T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+119T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.772T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+119T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1384T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+119T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+119T>G
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 17919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20777
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

3-49040162-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040162
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040162
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 28022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+133G>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+133G>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.786G>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+133G>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+133G>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1398G>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+133G>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+133G>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+133G>C
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17013
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25882
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6134
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

3-49040173-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040173
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040173
    reference: chr 3
allele count: 1
allele frequency: 4.652894100130281e-5
allele num: 21492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+144G>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+144G>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1409G>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+144G>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.797G>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+144G>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+144G>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+144G>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+144G>T
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30896
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/3-49040174-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040174
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040174
    reference: chr 3
allele count: 1
allele frequency: 4.827186715582159e-5
allele num: 20716
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+145A>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.798A>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+145A>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+145A>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1410A>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+145A>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+145A>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+145A>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+145A>C
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5494
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

3-49040180-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040180
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040180
    reference: chr 3
allele count: 1
allele frequency: 5.469262743382192e-5
allele num: 18284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1416C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+151C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+151C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+151C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+151C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.804C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+151C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+151C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+151C>T
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32748
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9293
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

3-49040183-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040183
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040183
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 17438
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+154T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+154T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1419T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+154T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+154T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+154T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.807T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+154T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+154T>C
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9933
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33071
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4902
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8644
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

3-49040189-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040189
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040189
    reference: chr 3
allele count: 34
allele frequency: 2.150265621047306e-3
allele num: 15812
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+160T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+160T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+160T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+160T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+160T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.813T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+160T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1425T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+160T>C
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8782
  bin: 7.5e0
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 33286
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7508
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-49040194-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040194
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040194
    reference: chr 3
allele count: 1
allele frequency: 6.839945280437756e-5
allele num: 14620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+165C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+165C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+165C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+165C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+165C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+165C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+165C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.818C>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1430C>A
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

3-49040203-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040203
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040203
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 12692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+174T>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+174T>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1439T>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.827T>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+174T>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+174T>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+174T>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+174T>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+174T>A
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32134
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

3-49040214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040214
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040214
    reference: chr 3
allele count: 1
allele frequency: 9.453582907922102e-5
allele num: 10578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+185C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.838C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+185C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1450C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+185C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+185C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+185C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+185C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+185C>T
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29913
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4067
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

3-49040220-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040220
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040220
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 9818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+191C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+191C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.844C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+191C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+191C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+191C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1456C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+191C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+191C>T
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29057
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

3-49040221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040221
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040221
    reference: chr 3
allele count: 1
allele frequency: 1.01461038961039e-4
allele num: 9856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+192C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.845C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+192C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+192C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1457C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+192C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+192C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+192C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+192C>T
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5563
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

3-49040224-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040224
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040224
    reference: chr 3
allele count: 8
allele frequency: 8.408660920748371e-4
allele num: 9514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+195C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1460C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+195C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.848C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+195C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+195C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+195C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+195C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+195C>T
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28965
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5575
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

3-49040225-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040225
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040225
    reference: chr 3
allele count: 3
allele frequency: 3.26797385620915e-4
allele num: 9180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+196G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.849G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+196G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+196G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+196G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1461G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+196G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+196G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+196G>A
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24594
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

3-49040243-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49040243
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49040243
    reference: chr 3
allele count: 15
allele frequency: 2.083912197832731e-3
allele num: 7198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.1479C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.512+214C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.724+214C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.598+214C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.100+214C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+214C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1073+214C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000485210
  gene symbol: P4HTM
  hgvsc: ENST00000485210.1:n.867C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.724+214C>T
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26084
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 1.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 19279
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

3-49041490-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49041490
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49041490
    reference: chr 3
allele count: 1
allele frequency: 5.914360066240833e-5
allele num: 16908
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1074-41A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.2726A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.101-41A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.513-41A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.725-41A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+1461A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.725-41A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.599-41A>G
  variant of: http://identifiers.org/hgnc/28858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

3-49041561-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49041561
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49041561
    reference: chr 3
allele count: 1
allele frequency: 4.688232536333802e-5
allele num: 21330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.629T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.131T>C
  hgvsp: ENSP00000476858.1:p.Met44Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1104T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+1532T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.2797T>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.755T>C
  hgvsp: ENSP00000373235.4:p.Met252Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.755T>C
  hgvsp: ENSP00000341422.4:p.Met252Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.543T>C
  hgvsp: ENSP00000398554.1:p.Met182Thr
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31377
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met252Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

3-49041568-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49041568
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49041568
    reference: chr 3
allele count: 1
allele frequency: 4.711647191858274e-5
allele num: 21224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.550T>G
  hgvsp: ENST00000444213.1:c.550T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.138T>G
  hgvsp: ENST00000472796.2:c.138T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.636T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1111T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.762T>G
  hgvsp: ENST00000343546.4:c.762T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.762T>G
  hgvsp: ENST00000383729.4:c.762T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.2804T>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+1539T>G
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7912
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu254Leu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

3-49041569-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49041569
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49041569
    reference: chr 3
allele count: 1
allele frequency: 4.725004725004725e-5
allele num: 21164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.551C>T
  hgvsp: ENSP00000398554.1:p.Arg185Trp
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.763C>T
  hgvsp: ENSP00000373235.4:p.Arg255Trp
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.637C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.2805C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.139C>T
  hgvsp: ENSP00000476858.1:p.Arg47Trp
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.763C>T
  hgvsp: ENSP00000341422.4:p.Arg255Trp
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+1540C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1112C>T
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10563
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7739
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg255Trp
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

3-49041570-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49041570
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49041570
    reference: chr 3
allele count: 1
allele frequency: 4.72411186696901e-5
allele num: 21168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.140G>A
  hgvsp: ENSP00000476858.1:p.Arg47Gln
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.764G>A
  hgvsp: ENSP00000341422.4:p.Arg255Gln
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.764G>A
  hgvsp: ENSP00000373235.4:p.Arg255Gln
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.2806G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+1541G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.638G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.552G>A
  hgvsp: ENSP00000398554.1:p.Arg185Gln
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1113G>A
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10313
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33718
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32425
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg255Gln
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/3-49041585-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49041585
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49041586
    reference: chr 3
allele count: 1
allele frequency: 4.788354721317755e-5
allele num: 20884
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.780dupC
  hgvsp: ENSP00000373235.4:p.Met261HisfsTer10
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.156dupC
  hgvsp: ENSP00000476858.1:p.Met53HisfsTer10
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.654dupC
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.568dupC
  hgvsp: ENSP00000398554.1:p.Met191HisfsTer10
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.2822dupC
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.780dupC
  hgvsp: ENSP00000341422.4:p.Met261HisfsTer10
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1129dupC
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+1557dupC
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34912
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met261HisfsTer10
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

3-49041590-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49041590
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49041590
    reference: chr 3
allele count: 7
allele frequency: 3.479125248508947e-4
allele num: 20120
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.784A>G
  hgvsp: ENSP00000373235.4:p.Arg262Gly
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.572A>G
  hgvsp: ENSP00000398554.1:p.Arg192Gly
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.784A>G
  hgvsp: ENSP00000341422.4:p.Arg262Gly
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1133A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.658A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+1561A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.160A>G
  hgvsp: ENSP00000476858.1:p.Arg54Gly
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.2826A>G
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34700
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3041
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31643
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Arg262Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-49041594-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49041594
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49041594
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 20742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+1565G>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.788G>C
  hgvsp: ENSP00000373235.4:p.Ser263Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.164G>C
  hgvsp: ENSP00000476858.1:p.Ser55Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.576G>C
  hgvsp: ENSP00000398554.1:p.Ser193Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.662G>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.2830G>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.788G>C
  hgvsp: ENSP00000341422.4:p.Ser263Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1137G>C
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35203
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33351
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser263Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

3-49041599-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49041599
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49041599
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 20636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.169A>G
  hgvsp: ENSP00000476858.1:p.Lys57Glu
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.793A>G
  hgvsp: ENSP00000341422.4:p.Lys265Glu
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+1570A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.2835A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.667A>G
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.581A>G
  hgvsp: ENSP00000398554.1:p.Lys195Glu
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.793A>G
  hgvsp: ENSP00000373235.4:p.Lys265Glu
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1142A>G
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35046
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys265Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-49041602-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49041602
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49041602
    reference: chr 3
allele count: 1
allele frequency: 4.868075163080518e-5
allele num: 20542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+1573G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.584G>A
  hgvsp: ENSP00000398554.1:p.Ala196Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.2838G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.796G>A
  hgvsp: ENSP00000341422.4:p.Ala266Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.796G>A
  hgvsp: ENSP00000373235.4:p.Ala266Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.172G>A
  hgvsp: ENSP00000476858.1:p.Ala58Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.670G>A
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1145G>A
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34685
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala266Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

3-49041612-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49041612
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49041612
    reference: chr 3
allele count: 4
allele frequency: 1.964057743297653e-4
allele num: 20366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.594G>C
  hgvsp: ENSP00000398554.1:p.Ser199Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1155G>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.680G>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.182G>C
  hgvsp: ENSP00000476858.1:p.Ser61Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.2848G>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.806G>C
  hgvsp: ENSP00000341422.4:p.Ser269Thr
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+1583G>C
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.806G>C
  hgvsp: ENSP00000373235.4:p.Ser269Thr
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33009
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30505
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7431
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2936
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 2.25e1
  variant carriers: 2
hgvs: p.Ser269Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

3-49041623-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49041623
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49041623
    reference: chr 3
allele count: 4
allele frequency: 1.98373338623289e-4
allele num: 20164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000472301
  gene symbol: P4HTM
  hgvsc: ENST00000472301.1:n.1166C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000373235
  ensembl transcript: ENST00000383729
  gene symbol: P4HTM
  hgvsc: ENST00000383729.4:c.817C>T
  hgvsp: ENSP00000373235.4:p.Arg273Trp
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000484115
  gene symbol: P4HTM
  hgvsc: ENST00000484115.1:n.2859C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476858
  ensembl transcript: ENST00000472796
  gene symbol: P4HTM
  hgvsc: ENST00000472796.2:c.193C>T
  hgvsp: ENSP00000476858.1:p.Arg65Trp
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000476303
  ensembl transcript: ENST00000491739
  gene symbol: P4HTM
  hgvsc: ENST00000491739.1:c.252+1594C>T
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000341422
  ensembl transcript: ENST00000343546
  gene symbol: P4HTM
  hgvsc: ENST00000343546.4:c.817C>T
  hgvsp: ENSP00000341422.4:p.Arg273Trp
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178467
  ensembl protein: ENSP00000398554
  ensembl transcript: ENST00000444213
  gene symbol: P4HTM
  hgvsc: ENST00000444213.1:c.605C>T
  hgvsp: ENSP00000398554.1:p.Arg203Trp
  variant of: http://identifiers.org/hgnc/28858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178467
  ensembl transcript: ENST00000468374
  gene symbol: P4HTM
  hgvsc: ENST00000468374.1:n.691C>T
  variant of: http://identifiers.org/hgnc/28858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30702
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg273Trp
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 159
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1643
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 464
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8540
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 972
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1274
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47395
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.792e0

FS
type: SiteQuality
SIO_000300: 5.42e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.95e-1

QD
type: SiteQuality
SIO_000300: 1.136e1

DP
type: SiteQuality
SIO_000300: 1.735228e6

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

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

GenotypeQuality
all individuals: 8535
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 462
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 47399
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 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
type: Population
allele count: 36
allele frequency: 2.180232558139535e-3
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.454828122300915e-4
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 63
allele frequency: 9.446127087893964e-4
allele num: 66694
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.179e1

DP
type: SiteQuality
SIO_000300: 1.743717e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.007e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.69e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

GenotypeQuality
all individuals: 1644
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 8.25e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 47426
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8530
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 7
allele frequency: 6.726888333653661e-4
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 650
allele frequency: 9.745419652763201e-3
allele num: 66698
num of homozygotes: 11

Other
type: Population
allele count: 5
allele frequency: 5.518763796909493e-3
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 6.661821705426356e-4
allele num: 16512
num of homozygotes: 1

Latino
type: Population
allele count: 61
allele frequency: 5.268612886508896e-3
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.058361052313275e-3
allele num: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

DP
type: SiteQuality
SIO_000300: 1.794068e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.61e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.271e1

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

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

GenotypeQuality
all individuals: 8639
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1668
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1278
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 47983
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.805843906189927e-4
allele num: 10404
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: 16512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.569e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.184e0

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

DP
type: SiteQuality
SIO_000300: 1.70097e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

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

GenotypeQuality
all individuals: 47982
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1666
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 459
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8637
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1278
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.097e1

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

FS
type: SiteQuality
SIO_000300: 4.18e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.15e-1

DP
type: SiteQuality
SIO_000300: 1.700476e6

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

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

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8632
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 47983
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1277
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1663
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.700426e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.087e0

FS
type: SiteQuality
SIO_000300: 2.337e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.338e1

GenotypeQuality
all individuals: 46
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 273
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 47985
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 458
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 5.963e1

VQSLOD
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QD
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FS
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DP
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ClippingRankSum
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SIO_000300: 5.5e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 904
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.49802087081684e-5
allele num: 66696
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ClippingRankSum
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FS
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DP
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VQSLOD
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BaseQRankSum
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MQ
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.06e-2

MQRankSum
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QD
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ReadPosRankSum
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SIO_000300: 5.84e-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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GenotypeQuality
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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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allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

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

European (Finnish)
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allele count: 2
allele frequency: 3.024803387779795e-4
allele num: 6612
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

African
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allele count: 4
allele frequency: 3.844675124951942e-4
allele num: 10404
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European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.499295331194339e-4
allele num: 66698
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.620000000000001e-1

ClippingRankSum
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SIO_000300: -7.8e-2

InbreedingCoeff
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VQSLOD
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BaseQRankSum
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DP
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QD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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SIO_000300: 3.35e-1

ReadPosRankSum
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SIO_000300: 5.76e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

DP
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MQ
type: SiteQuality
SIO_000300: 5.84e1

BaseQRankSum
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SIO_000300: 3.61e0

FS
type: SiteQuality
SIO_000300: 5.298e0

InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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ClippingRankSum
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VQSLOD
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QD
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SIO_000300: 1.329e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 4
allele frequency: 5.997541008186643e-5
allele num: 66694
num of homozygotes: 0

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

Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

African
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South Asian
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ClippingRankSum
type: SiteQuality
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MQ
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MQRankSum
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SIO_000300: 3.83e-1

ReadPosRankSum
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 2.015e0

BaseQRankSum
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VQSLOD
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 16510
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

Latino
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DP
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ClippingRankSum
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VQSLOD
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FS
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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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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GenotypeQuality
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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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East Asian
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African
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European (Non-Finnish)
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Other
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Latino
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MQ
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MQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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VQSLOD
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DP
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FS
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ReadPosRankSum
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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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East Asian
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South Asian
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African
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Other
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European (Finnish)
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European (Non-Finnish)
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Latino
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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QD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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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

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: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

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

European (Finnish)
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66628
num of homozygotes: 0

South Asian
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Other
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ReadPosRankSum
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FS
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InbreedingCoeff
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QD
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MQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele num: 11568
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.001741009785676e-5
allele num: 66628
num of homozygotes: 0

African
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allele num: 10404
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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Other
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ClippingRankSum
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VQSLOD
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DP
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FS
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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East Asian
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allele frequency: 8.092485549132948e-4
allele num: 8650
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Latino
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Other
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European (Non-Finnish)
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VQSLOD
type: SiteQuality
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QD
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FS
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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MQRankSum
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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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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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Latino
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Other
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African
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South Asian
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European (Non-Finnish)
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QD
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
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DP
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ClippingRankSum
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MQ
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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African
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Other
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QD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQ
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FS
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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European (Non-Finnish)
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Other
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South Asian
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MQ
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Latino
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.535970244035199e-5
allele num: 66138
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

InbreedingCoeff
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SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
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SIO_000300: -1.016e0

FS
type: SiteQuality
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MQ
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SIO_000300: 5.942e1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.837e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6506
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.515610791148833e-5
allele num: 65980
num of homozygotes: 0

East Asian
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allele frequency: 1.164686699277894e-4
allele num: 8586
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MQRankSum
type: SiteQuality
SIO_000300: -6.1e-1

VQSLOD
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BaseQRankSum
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DP
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QD
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FS
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InbreedingCoeff
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.032e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6502
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10326
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.517036317849449e-5
allele num: 65918
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8572
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South Asian
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allele frequency: 0.0e0
allele num: 16410
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InbreedingCoeff
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ClippingRankSum
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QD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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DP
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SIO_000300: 1.665128e6

FS
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65568
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6446
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10286
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.125199068969742e-5
allele num: 16326
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.107e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.568e0

ReadPosRankSum
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SIO_000300: -1.113e0

QD
type: SiteQuality
SIO_000300: 1.661e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

InbreedingCoeff
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SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 1.645794e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525273786644703e-5
allele num: 65562
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
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FS
type: SiteQuality
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ClippingRankSum
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.596e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64838
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.788566953797964e-5
allele num: 10216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

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

East Asian
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allele count: 1
allele frequency: 1.240387000744232e-4
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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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Other
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South Asian
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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FS
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VQSLOD
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DP
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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European (Non-Finnish)
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allele num: 61220
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Latino
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East Asian
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African
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European (Finnish)
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BaseQRankSum
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DP
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VQSLOD
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FS
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QD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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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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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Latino
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South Asian
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allele num: 15534
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European (Finnish)
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Other
type: Population
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num of homozygotes: 0

DP
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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QD
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 542
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15016
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 2.084708661964491e-4
allele num: 57562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.594536304816679e-4
allele num: 5564
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.089e0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

QD
type: SiteQuality
SIO_000300: 1.654e1

DP
type: SiteQuality
SIO_000300: 1.299247e6

GenotypeQuality
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 1978
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 175
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.91255785487511e-5
allele num: 52286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5016
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.1e1

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.125259e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 6.09e1

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3170
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.91255785487511e-5
allele num: 52286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14376
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.1e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

DP
type: SiteQuality
SIO_000300: 1.125259e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

MQ
type: SiteQuality
SIO_000300: 6.09e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

GenotypeQuality
all individuals: 3100
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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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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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
all individuals: 321
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6226
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.001820473323065e-5
allele num: 14282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51638
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.24e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.22e-1

FS
type: SiteQuality
SIO_000300: 9.63e-1

DP
type: SiteQuality
SIO_000300: 1.104129e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.26e-1

QD
type: SiteQuality
SIO_000300: 1.357e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 37
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14014
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.018733850129199e-5
allele num: 49536
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.046121e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.333e1

FS
type: SiteQuality
SIO_000300: 3.854e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
all individuals: 431
bin: 7.25e1
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
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bin: 2.25e1
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GenotypeQuality
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bin: 5.25e1
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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
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 337
bin: 7.75e1
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GenotypeQuality
all individuals: 81
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5606
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4422
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.911208151382824e-4
allele num: 13740
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.525e0

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.876e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.85703e5

QD
type: SiteQuality
SIO_000300: 1.116e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

GenotypeQuality
all individuals: 2060
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 889
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2015
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15614
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4120
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.343363782912413e-4
allele num: 7444
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.2615e5

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.772e0

GenotypeQuality
all individuals: 2060
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 387
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 15614
bin: 6.25e1
variant carriers: 5

GenotypeQuality
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bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1086
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3129
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 229
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 589
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2452
bin: 2.75e1
variant carriers: 6

GenotypeQuality
all individuals: 299
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 361
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 102
bin: 8.25e1
variant carriers: 11

GenotypeQuality
all individuals: 300
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 27
bin: 9.25e1
variant carriers: 9

European (Non-Finnish)
type: Population
allele count: 635
allele frequency: 1.432438529212723e-2
allele num: 44330
num of homozygotes: 3

African
type: Population
allele count: 110
allele frequency: 1.477700161203654e-2
allele num: 7444
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 27
allele frequency: 6.553398058252427e-3
allele num: 4120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5220
num of homozygotes: 0

Latino
type: Population
allele count: 44
allele frequency: 6.582884500299222e-3
allele num: 6684
num of homozygotes: 0

South Asian
type: Population
allele count: 52
allele frequency: 3.902731912338637e-3
allele num: 13324
num of homozygotes: 1

Other
type: Population
allele count: 6
allele frequency: 9.708737864077669e-3
allele num: 618
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.772e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.1e0

DP
type: SiteQuality
SIO_000300: 9.2615e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.33e1

GenotypeQuality
all individuals: 2079
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 7.75e1
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GenotypeQuality
all individuals: 1101
bin: 3.75e1
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GenotypeQuality
all individuals: 553
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GenotypeQuality
all individuals: 356
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GenotypeQuality
all individuals: 291
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GenotypeQuality
all individuals: 2490
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GenotypeQuality
all individuals: 4796
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GenotypeQuality
all individuals: 330
bin: 4.25e1
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GenotypeQuality
all individuals: 1447
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GenotypeQuality
all individuals: 47
bin: 9.75e1
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GenotypeQuality
all individuals: 339
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.25e1
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GenotypeQuality
all individuals: 282
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.36046511627907e-4
allele num: 6880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.532671461857968e-5
allele num: 39484
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.33e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.07e0

QD
type: SiteQuality
SIO_000300: 1.252e1

DP
type: SiteQuality
SIO_000300: 8.27831e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2461
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12690
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.131287297527707e-4
allele num: 4692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39374
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.24721e5

QD
type: SiteQuality
SIO_000300: 1.177e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

GenotypeQuality
all individuals: 58
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2412
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.458948164964057e-5
allele num: 10572
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.96095e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.277e1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

FS
type: SiteQuality
SIO_000300: 2.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.59e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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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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
all individuals: 12
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 8.51305334846765e-4
allele num: 10572
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 5.96095e5

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 2.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.59e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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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
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3780
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.159e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.92e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.174e0

QD
type: SiteQuality
SIO_000300: 5.28e0

DP
type: SiteQuality
SIO_000300: 5.46426e5

GenotypeQuality
all individuals: 12
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1793
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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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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 418
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GenotypeQuality
all individuals: 688
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 924
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9038
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.292e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.45e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.50961e5

QD
type: SiteQuality
SIO_000300: 1.267e1

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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: 41
bin: 5.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.108401684770561e-4
allele num: 9022
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.397e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.299e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.569999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.267e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.695e1

DP
type: SiteQuality
SIO_000300: 3.84327e5

GenotypeQuality
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bin: 2.75e1
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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variant carriers: 1

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.17096018735363e-4
allele num: 8540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2014
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.76039e5

VQSLOD
type: SiteQuality
SIO_000300: -2.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.69e-2

QD
type: SiteQuality
SIO_000300: 3.96e0

GenotypeQuality
all individuals: 10
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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
all individuals: 101
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.251251251251251e-4
allele num: 7992
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.522e0

DP
type: SiteQuality
SIO_000300: 3.45409e5

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.437e0

QD
type: SiteQuality
SIO_000300: 1.532e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.13e-2

MQ
type: SiteQuality
SIO_000300: 5.945e1

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
all individuals: 1968
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GenotypeQuality
all individuals: 85
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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: 116
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GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1648
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7830
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.3125e5

VQSLOD
type: SiteQuality
SIO_000300: -2.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.25e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.32e0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 69
bin: 9.75e1
variant carriers: 36

GenotypeQuality
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bin: 9.25e1
variant carriers: 2

GenotypeQuality
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bin: 7.5e0
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 4

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 108
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4385
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 38
bin: 8.25e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 1.875e-2
allele num: 160
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 7.204610951008645e-4
allele num: 1388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.772002772002772e-3
allele num: 5772
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 1.342642320085929e-3
allele num: 7448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 9.66183574879227e-3
allele num: 414
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 3.05844e5

QD
type: SiteQuality
SIO_000300: 1.463e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.98e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.42e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 423
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31945
bin: 7.5e0
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GenotypeQuality
all individuals: 7000
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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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variant carriers: 1

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

GenotypeQuality
all individuals: 3813
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 7.763975155279503e-4
allele num: 1288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

DP
type: SiteQuality
SIO_000300: 2.85243e5

QD
type: SiteQuality
SIO_000300: 7.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.192e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.192e0

VQSLOD
type: SiteQuality
SIO_000300: -2.696e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.820000000000001e-2

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6322
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 761
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2771
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GenotypeQuality
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GenotypeQuality
all individuals: 696
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 441
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GenotypeQuality
all individuals: 30208
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.02e-2

QD
type: SiteQuality
SIO_000300: 1.473e1

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

FS
type: SiteQuality
SIO_000300: 3.468e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.784e0

DP
type: SiteQuality
SIO_000300: 2.43063e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
all individuals: 26456
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 766
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variant carriers: 0

GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 1063
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GenotypeQuality
all individuals: 609
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GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 5670
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.895375284306293e-4
allele num: 5276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.050000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.076e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

DP
type: SiteQuality
SIO_000300: 1.98747e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.47e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.98e-1

GenotypeQuality
all individuals: 606
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4288
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GenotypeQuality
all individuals: 209
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variant carriers: 0

GenotypeQuality
all individuals: 25315
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GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 53
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 58
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 545
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GenotypeQuality
all individuals: 122
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variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 926
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4854
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.85787e5

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

FS
type: SiteQuality
SIO_000300: 3.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.62e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 5.763e1

VQSLOD
type: SiteQuality
SIO_000300: -1.185e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

QD
type: SiteQuality
SIO_000300: 3.95e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4014
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
all individuals: 30
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GenotypeQuality
all individuals: 44
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GenotypeQuality
all individuals: 629
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GenotypeQuality
all individuals: 127
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GenotypeQuality
all individuals: 886
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.048340843916428e-4
allele num: 4882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.85301e5

QD
type: SiteQuality
SIO_000300: 1.645e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.693e0

MQRankSum
type: SiteQuality
SIO_000300: -7.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.906e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.54e-2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 6.25e1
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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bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 547
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GenotypeQuality
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GenotypeQuality
all individuals: 38
bin: 9.75e1
variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 14
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variant carriers: 1

GenotypeQuality
all individuals: 189
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 2.19573400250941e-3
allele num: 3188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4682
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.096491228070175e-3
allele num: 912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.491e0

QD
type: SiteQuality
SIO_000300: 1.096e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

FS
type: SiteQuality
SIO_000300: 4.32e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.54e-2

DP
type: SiteQuality
SIO_000300: 1.8145e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

GenotypeQuality
all individuals: 500
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
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GenotypeQuality
all individuals: 767
bin: 1.25e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 5363
bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 604
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.270111183780249e-4
allele num: 3058
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.242152466367713e-3
allele num: 892
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.155e0

DP
type: SiteQuality
SIO_000300: 1.76649e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.003e0

FS
type: SiteQuality
SIO_000300: 7.074e0

QD
type: SiteQuality
SIO_000300: 1.147e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.71e-2

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3710
bin: 2.25e1
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GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 35
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GenotypeQuality
all individuals: 27
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GenotypeQuality
all individuals: 7520
bin: 2.5e0
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GenotypeQuality
all individuals: 298
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GenotypeQuality
all individuals: 904
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GenotypeQuality
all individuals: 31
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GenotypeQuality
all individuals: 94
bin: 4.75e1
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GenotypeQuality
all individuals: 6
bin: 5.75e1
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GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 9.75e1
variant carriers: 17

South Asian
type: Population
allele count: 1
allele frequency: 3.035822707953856e-4
allele num: 3294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.025764895330113e-4
allele num: 2484
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.344743276283619e-2
allele num: 818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 8.547008547008548e-3
allele num: 234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.22e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

DP
type: SiteQuality
SIO_000300: 1.48859e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.276e1

VQSLOD
type: SiteQuality
SIO_000300: 4.79e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 3112
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 133
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3158
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28076
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3816
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.222792858889704e-4
allele num: 8178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2788
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 8.797000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 3.51392e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.346e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.33e-2

QD
type: SiteQuality
SIO_000300: 1.155e1

GenotypeQuality
all individuals: 168
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9582
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7753
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 82
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.050505050505051e-3
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 70
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-2

FS
type: SiteQuality
SIO_000300: 9.779e0

DP
type: SiteQuality
SIO_000300: 4.24115e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.684e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.38e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.35e-1

GenotypeQuality
all individuals: 245
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1599
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7748
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.526093088857546e-4
allele num: 2836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9094
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 3.945e0

DP
type: SiteQuality
SIO_000300: 4.13361e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.233e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

VQSLOD
type: SiteQuality
SIO_000300: -1.771e0

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 32148
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1527
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2113
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 107
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 2.202643171806168e-3
allele num: 454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 4.1233e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.82e-2

QD
type: SiteQuality
SIO_000300: 9.48e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.797e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

GenotypeQuality
all individuals: 240
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7769
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7777
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 82
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.265822784810127e-4
allele num: 7900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9046
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.264e0

FS
type: SiteQuality
SIO_000300: 2.886e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.82e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.103e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 4.10854e5

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4550
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7539
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2747
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32844
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2792
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.262307498106539e-4
allele num: 7922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.995e1

FS
type: SiteQuality
SIO_000300: 4.316e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.705e-1

QD
type: SiteQuality
SIO_000300: 1.662e1

MQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.46e-2

DP
type: SiteQuality
SIO_000300: 3.83822e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.42e-1

GenotypeQuality
all individuals: 55
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 131
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 4142
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 7174
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1276
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 262
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.872966692486445e-4
allele num: 2582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 7.189072609633358e-4
allele num: 8346
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.05774e2

DP
type: SiteQuality
SIO_000300: 3.74561e5

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.99e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e0

QD
type: SiteQuality
SIO_000300: 1.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.173e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.123e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.877e0

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 96
bin: 8.25e1
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GenotypeQuality
all individuals: 109
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.369e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.62e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

DP
type: SiteQuality
SIO_000300: 3.72204e5

GenotypeQuality
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3065
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7784
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33091
bin: 7.5e0
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8690
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2760
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.75e-2

DP
type: SiteQuality
SIO_000300: 3.64521e5

QD
type: SiteQuality
SIO_000300: 1.603e1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

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

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32582
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7696
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.006e0

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.86e-2

MQ
type: SiteQuality
SIO_000300: 5.923e1

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.664e0

DP
type: SiteQuality
SIO_000300: 3.58241e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

GenotypeQuality
all individuals: 438
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 159
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 168
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 107
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 203
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 258
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 54
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 3.533568904593639e-4
allele num: 8490
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.5e-2
allele num: 40
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

DP
type: SiteQuality
SIO_000300: 3.40098e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.426e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.920000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1