3-179519697-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519697
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519695
    reference: chr 3
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1726_1727delCT
  hgvsp: ENSP00000419348.1:p.Leu576AspfsTer11
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1693_1694delCT
  hgvsp: ENSP00000418440.1:p.Leu565AspfsTer11
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1798_1799delCT
  hgvsp: ENSP00000419975.1:p.Leu600AspfsTer11
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1222_1223delCT
  hgvsp: ENSP00000418665.1:p.Leu408AspfsTer11
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1474_1475delCT
  hgvsp: ENSP00000376420.3:p.Leu492AspfsTer11
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1621_1622delCT
  hgvsp: ENSP00000418054.1:p.Leu541AspfsTer11
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1792_1793delCT
  hgvsp: ENSP00000263962.8:p.Leu598AspfsTer11
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1477_1478delCT
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1669_1670delCT
  hgvsp: ENSP00000420555.1:p.Leu557AspfsTer11
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1474_1475delCT
  hgvsp: ENSP00000417270.1:p.Leu492AspfsTer11
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7020
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu600AspfsTer11
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: CAG
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

3-179519700-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519700
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519700
    reference: chr 3
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1797T>C
  hgvsp: ENST00000467460.1:c.1797T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1473T>C
  hgvsp: ENST00000464614.1:c.1473T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1791T>C
  hgvsp: ENST00000263962.8:c.1791T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1221T>C
  hgvsp: ENST00000468741.1:c.1221T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1668T>C
  hgvsp: ENST00000476138.1:c.1668T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1620T>C
  hgvsp: ENST00000472994.1:c.1620T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1725T>C
  hgvsp: ENST00000465751.1:c.1725T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1473T>C
  hgvsp: ENST00000392649.3:c.1473T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1476T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1692T>C
  hgvsp: ENST00000485199.1:c.1692T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser599Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

3-179519703-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519703
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519703
    reference: chr 3
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1794C>G
  hgvsp: ENST00000467460.1:c.1794C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1617C>G
  hgvsp: ENST00000472994.1:c.1617C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1470C>G
  hgvsp: ENST00000464614.1:c.1470C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1665C>G
  hgvsp: ENST00000476138.1:c.1665C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1473C>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1722C>G
  hgvsp: ENST00000465751.1:c.1722C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1470C>G
  hgvsp: ENST00000392649.3:c.1470C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1788C>G
  hgvsp: ENST00000263962.8:c.1788C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1689C>G
  hgvsp: ENST00000485199.1:c.1689C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1218C>G
  hgvsp: ENST00000468741.1:c.1218C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9068
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu598Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

3-179519706-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519706
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519706
    reference: chr 3
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1662G>A
  hgvsp: ENST00000476138.1:c.1662G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1467G>A
  hgvsp: ENST00000392649.3:c.1467G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1791G>A
  hgvsp: ENST00000467460.1:c.1791G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1719G>A
  hgvsp: ENST00000465751.1:c.1719G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1470G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1785G>A
  hgvsp: ENST00000263962.8:c.1785G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1614G>A
  hgvsp: ENST00000472994.1:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1686G>A
  hgvsp: ENST00000485199.1:c.1686G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1215G>A
  hgvsp: ENST00000468741.1:c.1215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1467G>A
  hgvsp: ENST00000464614.1:c.1467G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala597Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum

3-179519708-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519708
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519708
    reference: chr 3
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1465G>A
  hgvsp: ENSP00000417270.1:p.Ala489Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1465G>A
  hgvsp: ENSP00000376420.3:p.Ala489Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1612G>A
  hgvsp: ENSP00000418054.1:p.Ala538Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1660G>A
  hgvsp: ENSP00000420555.1:p.Ala554Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1213G>A
  hgvsp: ENSP00000418665.1:p.Ala405Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1789G>A
  hgvsp: ENSP00000419975.1:p.Ala597Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1783G>A
  hgvsp: ENSP00000263962.8:p.Ala595Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1684G>A
  hgvsp: ENSP00000418440.1:p.Ala562Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1717G>A
  hgvsp: ENSP00000419348.1:p.Ala573Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1468G>A
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala597Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

3-179519718-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519718
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519718
    reference: chr 3
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1773C>T
  hgvsp: ENST00000263962.8:c.1773C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1650C>T
  hgvsp: ENST00000476138.1:c.1650C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1203C>T
  hgvsp: ENST00000468741.1:c.1203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1779C>T
  hgvsp: ENST00000467460.1:c.1779C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1455C>T
  hgvsp: ENST00000464614.1:c.1455C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1674C>T
  hgvsp: ENST00000485199.1:c.1674C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1458C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1602C>T
  hgvsp: ENST00000472994.1:c.1602C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1455C>T
  hgvsp: ENST00000392649.3:c.1455C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1707C>T
  hgvsp: ENST00000465751.1:c.1707C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13035
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5407
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala593Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/3-179519724-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519724
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519724
    reference: chr 3
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1449G>T
  hgvsp: ENSP00000376420.3:p.Trp483Cys
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1197G>T
  hgvsp: ENSP00000418665.1:p.Trp399Cys
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1449G>T
  hgvsp: ENSP00000417270.1:p.Trp483Cys
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1596G>T
  hgvsp: ENSP00000418054.1:p.Trp532Cys
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1452G>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1668G>T
  hgvsp: ENSP00000418440.1:p.Trp556Cys
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1701G>T
  hgvsp: ENSP00000419348.1:p.Trp567Cys
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1644G>T
  hgvsp: ENSP00000420555.1:p.Trp548Cys
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1773G>T
  hgvsp: ENSP00000419975.1:p.Trp591Cys
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1767G>T
  hgvsp: ENSP00000263962.8:p.Trp589Cys
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Trp591Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-179519736-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519736
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519736
    reference: chr 3
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1755T>G
  hgvsp: ENST00000263962.8:c.1755T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1437T>G
  hgvsp: ENST00000392649.3:c.1437T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1656T>G
  hgvsp: ENST00000485199.1:c.1656T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1584T>G
  hgvsp: ENST00000472994.1:c.1584T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1437T>G
  hgvsp: ENST00000464614.1:c.1437T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1632T>G
  hgvsp: ENST00000476138.1:c.1632T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1761T>G
  hgvsp: ENST00000467460.1:c.1761T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1185T>G
  hgvsp: ENST00000468741.1:c.1185T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1440T>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1689T>G
  hgvsp: ENST00000465751.1:c.1689T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser587Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

3-179519736-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519736
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519736
    reference: chr 3
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1440T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1437T>C
  hgvsp: ENST00000464614.1:c.1437T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1755T>C
  hgvsp: ENST00000263962.8:c.1755T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1656T>C
  hgvsp: ENST00000485199.1:c.1656T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1584T>C
  hgvsp: ENST00000472994.1:c.1584T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1437T>C
  hgvsp: ENST00000392649.3:c.1437T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1689T>C
  hgvsp: ENST00000465751.1:c.1689T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1632T>C
  hgvsp: ENST00000476138.1:c.1632T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1185T>C
  hgvsp: ENST00000468741.1:c.1185T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1761T>C
  hgvsp: ENST00000467460.1:c.1761T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12424
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ser587Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

3-179519739-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519739
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519739
    reference: chr 3
allele count: 4
allele frequency: 3.294947198471145e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1686C>T
  hgvsp: ENST00000465751.1:c.1686C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1758C>T
  hgvsp: ENST00000467460.1:c.1758C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1434C>T
  hgvsp: ENST00000464614.1:c.1434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1653C>T
  hgvsp: ENST00000485199.1:c.1653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1629C>T
  hgvsp: ENST00000476138.1:c.1629C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1434C>T
  hgvsp: ENST00000392649.3:c.1434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1752C>T
  hgvsp: ENST00000263962.8:c.1752C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1182C>T
  hgvsp: ENST00000468741.1:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1437C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1581C>T
  hgvsp: ENST00000472994.1:c.1581C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile586Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

3-179519750-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519750
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519750
    reference: chr 3
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1570C>T
  hgvsp: ENSP00000418054.1:p.His524Tyr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1423C>T
  hgvsp: ENSP00000417270.1:p.His475Tyr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1618C>T
  hgvsp: ENSP00000420555.1:p.His540Tyr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1747C>T
  hgvsp: ENSP00000419975.1:p.His583Tyr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1642C>T
  hgvsp: ENSP00000418440.1:p.His548Tyr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1423C>T
  hgvsp: ENSP00000376420.3:p.His475Tyr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1171C>T
  hgvsp: ENSP00000418665.1:p.His391Tyr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1675C>T
  hgvsp: ENSP00000419348.1:p.His559Tyr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1426C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1741C>T
  hgvsp: ENSP00000263962.8:p.His581Tyr
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9820
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His583Tyr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-179519756-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519756
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519756
    reference: chr 3
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1165G>T
  hgvsp: ENSP00000418665.1:p.Val389Phe
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1741G>T
  hgvsp: ENSP00000419975.1:p.Val581Phe
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1636G>T
  hgvsp: ENSP00000418440.1:p.Val546Phe
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1735G>T
  hgvsp: ENSP00000263962.8:p.Val579Phe
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1669G>T
  hgvsp: ENSP00000419348.1:p.Val557Phe
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1417G>T
  hgvsp: ENSP00000417270.1:p.Val473Phe
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1564G>T
  hgvsp: ENSP00000418054.1:p.Val522Phe
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1417G>T
  hgvsp: ENSP00000376420.3:p.Val473Phe
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1420G>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1612G>T
  hgvsp: ENSP00000420555.1:p.Val538Phe
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val581Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

3-179519776-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519776
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519776
    reference: chr 3
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1715A>G
  hgvsp: ENSP00000263962.8:p.Lys572Arg
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1721A>G
  hgvsp: ENSP00000419975.1:p.Lys574Arg
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1616A>G
  hgvsp: ENSP00000418440.1:p.Lys539Arg
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1397A>G
  hgvsp: ENSP00000417270.1:p.Lys466Arg
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1544A>G
  hgvsp: ENSP00000418054.1:p.Lys515Arg
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1400A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1397A>G
  hgvsp: ENSP00000376420.3:p.Lys466Arg
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1649A>G
  hgvsp: ENSP00000419348.1:p.Lys550Arg
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1592A>G
  hgvsp: ENSP00000420555.1:p.Lys531Arg
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1145A>G
  hgvsp: ENSP00000418665.1:p.Lys382Arg
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys574Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

3-179519793-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519793
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519793
    reference: chr 3
allele count: 2
allele frequency: 1.649620587264929e-5
allele num: 121240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1698C>T
  hgvsp: ENST00000263962.8:c.1698C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1380C>T
  hgvsp: ENST00000464614.1:c.1380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1575C>T
  hgvsp: ENST00000476138.1:c.1575C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1632C>T
  hgvsp: ENST00000465751.1:c.1632C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1599C>T
  hgvsp: ENST00000485199.1:c.1599C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1383C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1380C>T
  hgvsp: ENST00000392649.3:c.1380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1128C>T
  hgvsp: ENST00000468741.1:c.1128C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1704C>T
  hgvsp: ENST00000467460.1:c.1704C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1527C>T
  hgvsp: ENST00000472994.1:c.1527C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9817
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5390
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala568Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD

3-179519798-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519798
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519798
    reference: chr 3
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1594A>G
  hgvsp: ENSP00000418440.1:p.Thr532Ala
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1522A>G
  hgvsp: ENSP00000418054.1:p.Thr508Ala
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1570A>G
  hgvsp: ENSP00000420555.1:p.Thr524Ala
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1375A>G
  hgvsp: ENSP00000417270.1:p.Thr459Ala
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1627A>G
  hgvsp: ENSP00000419348.1:p.Thr543Ala
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1699A>G
  hgvsp: ENSP00000419975.1:p.Thr567Ala
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1693A>G
  hgvsp: ENSP00000263962.8:p.Thr565Ala
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1378A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1375A>G
  hgvsp: ENSP00000376420.3:p.Thr459Ala
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1123A>G
  hgvsp: ENSP00000418665.1:p.Thr375Ala
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr567Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-179519808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519808
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519808
    reference: chr 3
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1617C>T
  hgvsp: ENST00000465751.1:c.1617C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1365C>T
  hgvsp: ENST00000392649.3:c.1365C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1365C>T
  hgvsp: ENST00000464614.1:c.1365C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1683C>T
  hgvsp: ENST00000263962.8:c.1683C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1560C>T
  hgvsp: ENST00000476138.1:c.1560C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1113C>T
  hgvsp: ENST00000468741.1:c.1113C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1368C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1584C>T
  hgvsp: ENST00000485199.1:c.1584C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1512C>T
  hgvsp: ENST00000472994.1:c.1512C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1689C>T
  hgvsp: ENST00000467460.1:c.1689C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser563Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

3-179519814-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519814
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519814
    reference: chr 3
allele count: 5
allele frequency: 4.138250678673112e-5
allele num: 120824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1359G>A
  hgvsp: ENST00000464614.1:c.1359G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1359G>A
  hgvsp: ENST00000392649.3:c.1359G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1107G>A
  hgvsp: ENST00000468741.1:c.1107G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1578G>A
  hgvsp: ENST00000485199.1:c.1578G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1611G>A
  hgvsp: ENST00000465751.1:c.1611G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1506G>A
  hgvsp: ENST00000472994.1:c.1506G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1683G>A
  hgvsp: ENST00000467460.1:c.1683G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1554G>A
  hgvsp: ENST00000476138.1:c.1554G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1677G>A
  hgvsp: ENST00000263962.8:c.1677G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1362G>A
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala561Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

3-179519825-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519825
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519825
    reference: chr 3
allele count: 1
allele frequency: 8.307441806370146e-6
allele num: 120374
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1677-5C>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1356-5C>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1500-5C>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1353-5C>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1101-5C>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1353-5C>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1671-5C>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1548-5C>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1572-5C>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1605-5C>G
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1677-5C>G
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-179519828-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519828
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519828
    reference: chr 3
allele count: 1
allele frequency: 8.313657676831499e-6
allele num: 120284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1548-8C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1101-8C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1356-8C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1353-8C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1671-8C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1500-8C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1572-8C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1677-8C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1353-8C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1605-8C>T
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1677-8C>T
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

3-179519838-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519838
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519838
    reference: chr 3
allele count: 1
allele frequency: 8.338753523123364e-6
allele num: 119922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1353-18G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1548-18G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1572-18G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1500-18G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1356-18G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1671-18G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1353-18G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1605-18G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1101-18G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1677-18G>A
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12408
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

3-179519838-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519838
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519836
    reference: chr 3
allele count: 2
allele frequency: 1.667750704624673e-5
allele num: 119922
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1605-20_1605-19delAT
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1671-20_1671-19delAT
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1572-20_1572-19delAT
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1353-20_1353-19delAT
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1500-20_1500-19delAT
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1548-20_1548-19delAT
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1356-20_1356-19delAT
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1677-20_1677-19delAT
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1101-20_1101-19delAT
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1353-20_1353-19delAT
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8800
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4499
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: CAT
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

3-179519839-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519839
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519839
    reference: chr 3
allele count: 32
allele frequency: 2.67022696929239e-4
allele num: 119840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1572-19T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1605-19T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1353-19T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1671-19T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1353-19T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1548-19T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1356-19T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1500-19T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1101-19T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1677-19T>C
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

3-179519866-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519866
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519866
    reference: chr 3
allele count: 4
allele frequency: 3.378663738491427e-5
allele num: 118390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1500-46C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1356-46C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1677-46C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1353-46C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1671-46C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1605-46C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1572-46C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1353-46C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1101-46C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1548-46C>T
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11330
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9355
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-179519869-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179519869
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179519869
    reference: chr 3
allele count: 1
allele frequency: 8.45508658008658e-6
allele num: 118272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1353-49T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1671-49T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1101-49T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1356-49T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1500-49T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1572-49T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1548-49T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1677-49T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1605-49T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1353-49T>C
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-179525411-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525411
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525411
    reference: chr 3
allele count: 1
allele frequency: 8.340144451301897e-6
allele num: 119902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1670+51C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1604+51C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1352+51C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1499+51C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1100+51C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1571+51C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1352+51C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1547+51C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1676+51C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1355+51C>T
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

3-179525430-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525430
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525430
    reference: chr 3
allele count: 14
allele frequency: 1.164570439874892e-4
allele num: 120216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1670+32C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1676+32C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1352+32C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1352+32C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1499+32C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1355+32C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1604+32C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1100+32C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1571+32C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1547+32C>T
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

3-179525470-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525470
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525470
    reference: chr 3
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1563C>T
  hgvsp: ENST00000485199.1:c.1563C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1092C>T
  hgvsp: ENST00000468741.1:c.1092C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1344C>T
  hgvsp: ENST00000392649.3:c.1344C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1344C>T
  hgvsp: ENST00000464614.1:c.1344C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1491C>T
  hgvsp: ENST00000472994.1:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1539C>T
  hgvsp: ENST00000476138.1:c.1539C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1347C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1662C>T
  hgvsp: ENST00000263962.8:c.1662C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1596C>T
  hgvsp: ENST00000465751.1:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1668C>T
  hgvsp: ENST00000467460.1:c.1668C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly556Gly
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

3-179525481-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525481
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525481
    reference: chr 3
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1552A>T
  hgvsp: ENSP00000418440.1:p.Ile518Phe
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1081A>T
  hgvsp: ENSP00000418665.1:p.Ile361Phe
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1480A>T
  hgvsp: ENSP00000418054.1:p.Ile494Phe
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1333A>T
  hgvsp: ENSP00000376420.3:p.Ile445Phe
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1651A>T
  hgvsp: ENSP00000263962.8:p.Ile551Phe
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1333A>T
  hgvsp: ENSP00000417270.1:p.Ile445Phe
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1336A>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1528A>T
  hgvsp: ENSP00000420555.1:p.Ile510Phe
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1585A>T
  hgvsp: ENSP00000419348.1:p.Ile529Phe
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1657A>T
  hgvsp: ENSP00000419975.1:p.Ile553Phe
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile553Phe
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS

3-179525482-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525482
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525482
    reference: chr 3
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1335C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1527C>T
  hgvsp: ENST00000476138.1:c.1527C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1656C>T
  hgvsp: ENST00000467460.1:c.1656C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1479C>T
  hgvsp: ENST00000472994.1:c.1479C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1584C>T
  hgvsp: ENST00000465751.1:c.1584C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1332C>T
  hgvsp: ENST00000392649.3:c.1332C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1080C>T
  hgvsp: ENST00000468741.1:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1650C>T
  hgvsp: ENST00000263962.8:c.1650C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1332C>T
  hgvsp: ENST00000464614.1:c.1332C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1551C>T
  hgvsp: ENST00000485199.1:c.1551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys552Cys
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

3-179525495-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525495
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525495
    reference: chr 3
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1538T>C
  hgvsp: ENSP00000418440.1:p.Leu513Pro
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1571T>C
  hgvsp: ENSP00000419348.1:p.Leu524Pro
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1466T>C
  hgvsp: ENSP00000418054.1:p.Leu489Pro
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1643T>C
  hgvsp: ENSP00000419975.1:p.Leu548Pro
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1319T>C
  hgvsp: ENSP00000376420.3:p.Leu440Pro
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1637T>C
  hgvsp: ENSP00000263962.8:p.Leu546Pro
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1322T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1319T>C
  hgvsp: ENSP00000417270.1:p.Leu440Pro
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1067T>C
  hgvsp: ENSP00000418665.1:p.Leu356Pro
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1514T>C
  hgvsp: ENSP00000420555.1:p.Leu505Pro
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu548Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

3-179525524-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525524
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525524
    reference: chr 3
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1038G>A
  hgvsp: ENST00000468741.1:c.1038G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1290G>A
  hgvsp: ENST00000464614.1:c.1290G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1509G>A
  hgvsp: ENST00000485199.1:c.1509G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1608G>A
  hgvsp: ENST00000263962.8:c.1608G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1290G>A
  hgvsp: ENST00000392649.3:c.1290G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1437G>A
  hgvsp: ENST00000472994.1:c.1437G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1614G>A
  hgvsp: ENST00000467460.1:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1542G>A
  hgvsp: ENST00000465751.1:c.1542G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1485G>A
  hgvsp: ENST00000476138.1:c.1485G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1293G>A
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln538Gln
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

3-179525539-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525539
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525539
    reference: chr 3
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1470A>G
  hgvsp: ENST00000476138.1:c.1470A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1275A>G
  hgvsp: ENST00000392649.3:c.1275A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1527A>G
  hgvsp: ENST00000465751.1:c.1527A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1599A>G
  hgvsp: ENST00000467460.1:c.1599A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1023A>G
  hgvsp: ENST00000468741.1:c.1023A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1422A>G
  hgvsp: ENST00000472994.1:c.1422A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1275A>G
  hgvsp: ENST00000464614.1:c.1275A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1494A>G
  hgvsp: ENST00000485199.1:c.1494A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1593A>G
  hgvsp: ENST00000263962.8:c.1593A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1278A>G
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg533Arg
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: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

3-179525557-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525557
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525557
    reference: chr 3
allele count: 5
allele frequency: 4.118819711023609e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1257C>T
  hgvsp: ENST00000464614.1:c.1257C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1260C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1476C>T
  hgvsp: ENST00000485199.1:c.1476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1404C>T
  hgvsp: ENST00000472994.1:c.1404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1575C>T
  hgvsp: ENST00000263962.8:c.1575C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1257C>T
  hgvsp: ENST00000392649.3:c.1257C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1452C>T
  hgvsp: ENST00000476138.1:c.1452C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1581C>T
  hgvsp: ENST00000467460.1:c.1581C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.1005C>T
  hgvsp: ENST00000468741.1:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1509C>T
  hgvsp: ENST00000465751.1:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala527Ala
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

3-179525565-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525565
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525565
    reference: chr 3
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1249G>A
  hgvsp: ENSP00000376420.3:p.Glu417Lys
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1252G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1444G>A
  hgvsp: ENSP00000420555.1:p.Glu482Lys
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1249G>A
  hgvsp: ENSP00000417270.1:p.Glu417Lys
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.997G>A
  hgvsp: ENSP00000418665.1:p.Glu333Lys
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1468G>A
  hgvsp: ENSP00000418440.1:p.Glu490Lys
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1396G>A
  hgvsp: ENSP00000418054.1:p.Glu466Lys
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1567G>A
  hgvsp: ENSP00000263962.8:p.Glu523Lys
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1573G>A
  hgvsp: ENSP00000419975.1:p.Glu525Lys
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1501G>A
  hgvsp: ENSP00000419348.1:p.Glu501Lys
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu525Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

3-179525570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525570
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525570
    reference: chr 3
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1244G>A
  hgvsp: ENSP00000376420.3:p.Arg415His
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1391G>A
  hgvsp: ENSP00000418054.1:p.Arg464His
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1247G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1439G>A
  hgvsp: ENSP00000420555.1:p.Arg480His
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1463G>A
  hgvsp: ENSP00000418440.1:p.Arg488His
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1568G>A
  hgvsp: ENSP00000419975.1:p.Arg523His
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.992G>A
  hgvsp: ENSP00000418665.1:p.Arg331His
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1562G>A
  hgvsp: ENSP00000263962.8:p.Arg521His
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1496G>A
  hgvsp: ENSP00000419348.1:p.Arg499His
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1244G>A
  hgvsp: ENSP00000417270.1:p.Arg415His
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43845
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg523His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

3-179525578-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525578
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525578
    reference: chr 3
allele count: 4
allele frequency: 3.296576505299247e-5
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1236C>T
  hgvsp: ENST00000464614.1:c.1236C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1236C>T
  hgvsp: ENST00000392649.3:c.1236C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1431C>T
  hgvsp: ENST00000476138.1:c.1431C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1488C>T
  hgvsp: ENST00000465751.1:c.1488C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1383C>T
  hgvsp: ENST00000472994.1:c.1383C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1554C>T
  hgvsp: ENST00000263962.8:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1560C>T
  hgvsp: ENST00000467460.1:c.1560C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1455C>T
  hgvsp: ENST00000485199.1:c.1455C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.984C>T
  hgvsp: ENST00000468741.1:c.984C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1239C>T
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn520Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/3-179525581-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525581
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525581
    reference: chr 3
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1551G>T
  hgvsp: ENST00000263962.8:c.1551G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1428G>T
  hgvsp: ENST00000476138.1:c.1428G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1380G>T
  hgvsp: ENST00000472994.1:c.1380G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.981G>T
  hgvsp: ENST00000468741.1:c.981G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1233G>T
  hgvsp: ENST00000392649.3:c.1233G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1557G>T
  hgvsp: ENST00000467460.1:c.1557G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1452G>T
  hgvsp: ENST00000485199.1:c.1452G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1485G>T
  hgvsp: ENST00000465751.1:c.1485G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1236G>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1233G>T
  hgvsp: ENST00000464614.1:c.1233G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala519Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

3-179525581-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525581
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525581
    reference: chr 3
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1557G>A
  hgvsp: ENST00000467460.1:c.1557G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1233G>A
  hgvsp: ENST00000464614.1:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.981G>A
  hgvsp: ENST00000468741.1:c.981G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1380G>A
  hgvsp: ENST00000472994.1:c.1380G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1551G>A
  hgvsp: ENST00000263962.8:c.1551G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1428G>A
  hgvsp: ENST00000476138.1:c.1428G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1452G>A
  hgvsp: ENST00000485199.1:c.1452G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1233G>A
  hgvsp: ENST00000392649.3:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1236G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1485G>A
  hgvsp: ENST00000465751.1:c.1485G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala519Ala
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

3-179525590-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525590
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525590
    reference: chr 3
allele count: 2
allele frequency: 1.650737054094653e-5
allele num: 121158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1542G>A
  hgvsp: ENST00000263962.8:c.1542G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1224G>A
  hgvsp: ENST00000392649.3:c.1224G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1371G>A
  hgvsp: ENST00000472994.1:c.1371G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1548G>A
  hgvsp: ENST00000467460.1:c.1548G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1419G>A
  hgvsp: ENST00000476138.1:c.1419G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1443G>A
  hgvsp: ENST00000485199.1:c.1443G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1224G>A
  hgvsp: ENST00000464614.1:c.1224G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.972G>A
  hgvsp: ENST00000468741.1:c.972G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1227G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1476G>A
  hgvsp: ENST00000465751.1:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8360
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala516Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

3-179525593-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525593
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525593
    reference: chr 3
allele count: 3
allele frequency: 2.476637057094739e-5
allele num: 121132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1368G>A
  hgvsp: ENST00000472994.1:c.1368G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1473G>A
  hgvsp: ENST00000465751.1:c.1473G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1221G>A
  hgvsp: ENST00000392649.3:c.1221G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1224G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1221G>A
  hgvsp: ENST00000464614.1:c.1221G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1416G>A
  hgvsp: ENST00000476138.1:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.969G>A
  hgvsp: ENST00000468741.1:c.969G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1539G>A
  hgvsp: ENST00000263962.8:c.1539G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1440G>A
  hgvsp: ENST00000485199.1:c.1440G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1545G>A
  hgvsp: ENST00000467460.1:c.1545G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly515Gly
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

3-179525611-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525611
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525611
    reference: chr 3
allele count: 2
allele frequency: 1.661571181709424e-5
allele num: 120368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1350A>T
  hgvsp: ENST00000472994.1:c.1350A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1527A>T
  hgvsp: ENST00000467460.1:c.1527A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1398A>T
  hgvsp: ENST00000476138.1:c.1398A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1206A>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1422A>T
  hgvsp: ENST00000485199.1:c.1422A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1521A>T
  hgvsp: ENST00000263962.8:c.1521A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1455A>T
  hgvsp: ENST00000465751.1:c.1455A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1203A>T
  hgvsp: ENST00000392649.3:c.1203A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.951A>T
  hgvsp: ENST00000468741.1:c.951A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1203A>T
  hgvsp: ENST00000464614.1:c.1203A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser509Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-179525616-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525616
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525616
    reference: chr 3
allele count: 1
allele frequency: 8.319605983460623e-6
allele num: 120198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1201T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1198T>C
  hgvsp: ENSP00000417270.1:p.Tyr400His
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1450T>C
  hgvsp: ENSP00000419348.1:p.Tyr484His
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1417T>C
  hgvsp: ENSP00000418440.1:p.Tyr473His
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1516T>C
  hgvsp: ENSP00000263962.8:p.Tyr506His
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1522T>C
  hgvsp: ENSP00000419975.1:p.Tyr508His
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1345T>C
  hgvsp: ENSP00000418054.1:p.Tyr449His
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1198T>C
  hgvsp: ENSP00000376420.3:p.Tyr400His
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1393T>C
  hgvsp: ENSP00000420555.1:p.Tyr465His
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.946T>C
  hgvsp: ENSP00000418665.1:p.Tyr316His
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr508His
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

3-179525632-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525632
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525632
    reference: chr 3
allele count: 6
allele frequency: 5.025883298989798e-5
allele num: 119382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1198-13A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1519-13A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1195-13A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1414-13A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.943-13A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1195-13A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1390-13A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1513-13A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1342-13A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1447-13A>G
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5181
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

3-179525641-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525641
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525641
    reference: chr 3
allele count: 1
allele frequency: 8.40180806909647e-6
allele num: 119022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1342-22A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1447-22A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1513-22A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1198-22A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1195-22A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1390-22A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1414-22A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1195-22A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.943-22A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1519-22A>G
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43837
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

3-179525651-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525651
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525651
    reference: chr 3
allele count: 2
allele frequency: 1.690960127160202e-5
allele num: 118276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1390-32G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1342-32G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1513-32G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1414-32G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1198-32G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1195-32G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1519-32G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1447-32G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.943-32G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1195-32G>A
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

3-179525653-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525653
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525653
    reference: chr 3
allele count: 1
allele frequency: 8.449799739746167e-6
allele num: 118346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1342-34C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1513-34C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1195-34C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1414-34C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1195-34C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1519-34C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1198-34C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1390-34C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.943-34C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1447-34C>T
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS

http://identifiers.org/exac.variant/3-179525656-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525656
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525656
    reference: chr 3
allele count: 2
allele frequency: 1.693050029628376e-5
allele num: 118130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1513-37G>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1198-37G>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1342-37G>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1519-37G>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1195-37G>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1447-37G>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1195-37G>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1390-37G>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.943-37G>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1414-37G>T
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

3-179525660-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525660
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525660
    reference: chr 3
allele count: 18
allele frequency: 1.526536289159896e-4
allele num: 117914
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1519-41C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1390-41C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1513-41C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1195-41C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1342-41C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.943-41C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1414-41C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1195-41C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1447-41C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1198-41C>T
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3670
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

3-179525668-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525668
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525668
    reference: chr 3
allele count: 2
allele frequency: 1.706397283415525e-5
allele num: 117206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.943-49T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1447-49T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1414-49T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1342-49T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1195-49T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1195-49T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1198-49T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1519-49T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1390-49T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1513-49T>C
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

3-179525670-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179525670
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179525670
    reference: chr 3
allele count: 4
allele frequency: 3.421727972626176e-5
allele num: 116900
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1195-51T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1342-51T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.943-51T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1519-51T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1390-51T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1513-51T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1414-51T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1447-51T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1198-51T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1195-51T>C
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-179526009-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179526009
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179526009
    reference: chr 3
allele count: 1
allele frequency: 9.318622334874013e-6
allele num: 107312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.942+51A>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1413+51A>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1194+51A>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1518+51A>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1341+51A>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1194+51A>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1197+51A>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1512+51A>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1389+51A>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1446+51A>C
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2976
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

3-179526020-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179526020
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179526020
    reference: chr 3
allele count: 3
allele frequency: 2.790074774003943e-5
allele num: 107524
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1341+40T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1518+40T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1413+40T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1194+40T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1512+40T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1194+40T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.942+40T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1389+40T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1197+40T>C
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1446+40T>C
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7191
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

3-179526023-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179526023
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179526023
    reference: chr 3
allele count: 1
allele frequency: 9.289708860524311e-6
allele num: 107646
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1512+37C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1446+37C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1194+37C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1518+37C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1341+37C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1413+37C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1389+37C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1197+37C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.942+37C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1194+37C>T
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

3-179526026-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179526026
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179526026
    reference: chr 3
allele count: 537
allele frequency: 4.97876838064863e-3
allele num: 107858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.942+34G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1194+34G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1518+34G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1341+34G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1413+34G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1197+34G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1194+34G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1446+34G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1389+34G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1512+34G>A
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 4.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 1.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 3.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 21937
  bin: 2.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 9658
  bin: 2.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 5764
  bin: 3.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 4.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 1.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 2
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

3-179526027-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179526027
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179526027
    reference: chr 3
allele count: 1
allele frequency: 9.245733094177037e-6
allele num: 108158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1194+33C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1341+33C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1518+33C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1194+33C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1446+33C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1197+33C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1512+33C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1389+33C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.942+33C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1413+33C>T
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23043
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6025
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

3-179526045-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179526045
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179526045
    reference: chr 3
allele count: 1
allele frequency: 9.052067492215222e-6
allele num: 110472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1389+15C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1197+15C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1512+15C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1194+15C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1518+15C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1341+15C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.942+15C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1413+15C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1194+15C>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1446+15C>T
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11183
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

3-179526057-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179526057
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179526057
    reference: chr 3
allele count: 2
allele frequency: 1.785395465095519e-5
allele num: 112020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1446+3A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1413+3A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1194+3A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1512+3A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.942+3A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1341+3A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1197+3A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1389+3A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1518+3A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1194+3A>G
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1518+3A>G
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

3-179526066-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179526066
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179526066
    reference: chr 3
allele count: 2
allele frequency: 1.769942830846564e-5
allele num: 112998
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1407G>A
  hgvsp: ENST00000485199.1:c.1407G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1440G>A
  hgvsp: ENST00000465751.1:c.1440G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1188G>A
  hgvsp: ENST00000392649.3:c.1188G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1506G>A
  hgvsp: ENST00000263962.8:c.1506G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1512G>A
  hgvsp: ENST00000467460.1:c.1512G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1383G>A
  hgvsp: ENST00000476138.1:c.1383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1188G>A
  hgvsp: ENST00000464614.1:c.1188G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1335G>A
  hgvsp: ENST00000472994.1:c.1335G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1191G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.936G>A
  hgvsp: ENST00000468741.1:c.936G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7352
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg504Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-179526083-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179526083
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179526083
    reference: chr 3
allele count: 1
allele frequency: 8.627383314640669e-6
allele num: 115910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1423G>A
  hgvsp: ENSP00000419348.1:p.Ala475Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1171G>A
  hgvsp: ENSP00000376420.3:p.Ala391Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1318G>A
  hgvsp: ENSP00000418054.1:p.Ala440Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.919G>A
  hgvsp: ENSP00000418665.1:p.Ala307Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1489G>A
  hgvsp: ENSP00000263962.8:p.Ala497Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1171G>A
  hgvsp: ENSP00000417270.1:p.Ala391Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1366G>A
  hgvsp: ENSP00000420555.1:p.Ala456Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1495G>A
  hgvsp: ENSP00000419975.1:p.Ala499Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1174G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1390G>A
  hgvsp: ENSP00000418440.1:p.Ala464Thr
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala499Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

3-179526090-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179526090
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179526090
    reference: chr 3
allele count: 66
allele frequency: 5.626790342381667e-4
allele num: 117296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.912A>G
  hgvsp: ENST00000468741.1:c.912A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1488A>G
  hgvsp: ENST00000467460.1:c.1488A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1482A>G
  hgvsp: ENST00000263962.8:c.1482A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1167A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1311A>G
  hgvsp: ENST00000472994.1:c.1311A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1359A>G
  hgvsp: ENST00000476138.1:c.1359A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1383A>G
  hgvsp: ENST00000485199.1:c.1383A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1164A>G
  hgvsp: ENST00000464614.1:c.1164A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1164A>G
  hgvsp: ENST00000392649.3:c.1164A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1416A>G
  hgvsp: ENST00000465751.1:c.1416A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27863
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 12805
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala496Ala
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

3-179526103-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179526103
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179526103
    reference: chr 3
allele count: 1
allele frequency: 8.415808254224735e-6
allele num: 118824
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.899G>C
  hgvsp: ENSP00000418665.1:p.Arg300Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1469G>C
  hgvsp: ENSP00000263962.8:p.Arg490Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1370G>C
  hgvsp: ENSP00000418440.1:p.Arg457Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1403G>C
  hgvsp: ENSP00000419348.1:p.Arg468Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1151G>C
  hgvsp: ENSP00000376420.3:p.Arg384Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1151G>C
  hgvsp: ENSP00000417270.1:p.Arg384Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1475G>C
  hgvsp: ENSP00000419975.1:p.Arg492Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1346G>C
  hgvsp: ENSP00000420555.1:p.Arg449Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1298G>C
  hgvsp: ENSP00000418054.1:p.Arg433Thr
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1154G>C
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg492Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

3-179526104-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179526104
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179526104
    reference: chr 3
allele count: 27
allele frequency: 2.269632319564231e-4
allele num: 118962
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1153A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.898A>G
  hgvsp: ENSP00000418665.1:p.Arg300Gly
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1402A>G
  hgvsp: ENSP00000419348.1:p.Arg468Gly
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1150A>G
  hgvsp: ENSP00000417270.1:p.Arg384Gly
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1297A>G
  hgvsp: ENSP00000418054.1:p.Arg433Gly
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1345A>G
  hgvsp: ENSP00000420555.1:p.Arg449Gly
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1468A>G
  hgvsp: ENSP00000263962.8:p.Arg490Gly
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1150A>G
  hgvsp: ENSP00000376420.3:p.Arg384Gly
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1369A>G
  hgvsp: ENSP00000418440.1:p.Arg457Gly
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1474A>G
  hgvsp: ENSP00000419975.1:p.Arg492Gly
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13175
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7716
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28597
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg492Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

3-179526136-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179526136
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179526136
    reference: chr 3
allele count: 1
allele frequency: 8.302751531857658e-6
allele num: 120442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.866G>A
  hgvsp: ENSP00000418665.1:p.Gly289Glu
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1370G>A
  hgvsp: ENSP00000419348.1:p.Gly457Glu
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1442G>A
  hgvsp: ENSP00000419975.1:p.Gly481Glu
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1337G>A
  hgvsp: ENSP00000418440.1:p.Gly446Glu
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1118G>A
  hgvsp: ENSP00000376420.3:p.Gly373Glu
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1436G>A
  hgvsp: ENSP00000263962.8:p.Gly479Glu
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1265G>A
  hgvsp: ENSP00000418054.1:p.Gly422Glu
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1313G>A
  hgvsp: ENSP00000420555.1:p.Gly438Glu
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1118G>A
  hgvsp: ENSP00000417270.1:p.Gly373Glu
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1121G>A
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly481Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

3-179526165-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179526165
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179526165
    reference: chr 3
allele count: 1
allele frequency: 8.332222370350619e-6
allele num: 120016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1284G>A
  hgvsp: ENSP00000420555.1:p.Met428Ile
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1413G>A
  hgvsp: ENSP00000419975.1:p.Met471Ile
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1236G>A
  hgvsp: ENSP00000418054.1:p.Met412Ile
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1308G>A
  hgvsp: ENSP00000418440.1:p.Met436Ile
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1089G>A
  hgvsp: ENSP00000376420.3:p.Met363Ile
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1407G>A
  hgvsp: ENSP00000263962.8:p.Met469Ile
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.837G>A
  hgvsp: ENSP00000418665.1:p.Met279Ile
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1089G>A
  hgvsp: ENSP00000417270.1:p.Met363Ile
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1341G>A
  hgvsp: ENSP00000419348.1:p.Met447Ile
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1092G>A
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met471Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-179526169-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179526169
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179526169
    reference: chr 3
allele count: 1
allele frequency: 8.340422692622062e-6
allele num: 119898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1085A>T
  hgvsp: ENSP00000417270.1:p.Asp362Val
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1088A>T
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1409A>T
  hgvsp: ENSP00000419975.1:p.Asp470Val
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1085A>T
  hgvsp: ENSP00000376420.3:p.Asp362Val
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1337A>T
  hgvsp: ENSP00000419348.1:p.Asp446Val
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1403A>T
  hgvsp: ENSP00000263962.8:p.Asp468Val
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1232A>T
  hgvsp: ENSP00000418054.1:p.Asp411Val
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1304A>T
  hgvsp: ENSP00000418440.1:p.Asp435Val
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1280A>T
  hgvsp: ENSP00000420555.1:p.Asp427Val
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.833A>T
  hgvsp: ENSP00000418665.1:p.Asp278Val
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7785
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp470Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

3-179526180-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179526180
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179526180
    reference: chr 3
allele count: 2
allele frequency: 1.675434775324197e-5
allele num: 119372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1392C>A
  hgvsp: ENSP00000263962.8:p.His464Gln
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1326C>A
  hgvsp: ENSP00000419348.1:p.His442Gln
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1293C>A
  hgvsp: ENSP00000418440.1:p.His431Gln
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1077C>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1269C>A
  hgvsp: ENSP00000420555.1:p.His423Gln
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1221C>A
  hgvsp: ENSP00000418054.1:p.His407Gln
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1074C>A
  hgvsp: ENSP00000376420.3:p.His358Gln
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1074C>A
  hgvsp: ENSP00000417270.1:p.His358Gln
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.822C>A
  hgvsp: ENSP00000418665.1:p.His274Gln
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1398C>A
  hgvsp: ENSP00000419975.1:p.His466Gln
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His466Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

3-179526204-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179526204
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179526204
    reference: chr 3
allele count: 1
allele frequency: 8.475725522104692e-6
allele num: 117984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.798G>A
  hgvsp: ENST00000468741.1:c.798G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1368G>A
  hgvsp: ENST00000263962.8:c.1368G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1197G>A
  hgvsp: ENST00000472994.1:c.1197G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1269G>A
  hgvsp: ENST00000485199.1:c.1269G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1245G>A
  hgvsp: ENST00000476138.1:c.1245G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1050G>A
  hgvsp: ENST00000392649.3:c.1050G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1050G>A
  hgvsp: ENST00000464614.1:c.1050G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1374G>A
  hgvsp: ENST00000467460.1:c.1374G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1302G>A
  hgvsp: ENST00000465751.1:c.1302G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1053G>A
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys458Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-179526206-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179526206
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179526206
    reference: chr 3
allele count: 2
allele frequency: 1.695288792445793e-5
allele num: 117974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1195A>G
  hgvsp: ENSP00000418054.1:p.Lys399Glu
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1366A>G
  hgvsp: ENSP00000263962.8:p.Lys456Glu
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1048A>G
  hgvsp: ENSP00000417270.1:p.Lys350Glu
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.796A>G
  hgvsp: ENSP00000418665.1:p.Lys266Glu
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1243A>G
  hgvsp: ENSP00000420555.1:p.Lys415Glu
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1372A>G
  hgvsp: ENSP00000419975.1:p.Lys458Glu
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1048A>G
  hgvsp: ENSP00000376420.3:p.Lys350Glu
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1267A>G
  hgvsp: ENSP00000418440.1:p.Lys423Glu
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1051A>G
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1300A>G
  hgvsp: ENSP00000419348.1:p.Lys434Glu
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4009
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys458Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-179526207-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179526207
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 179526207
    reference: chr 3
allele count: 4
allele frequency: 3.397258412461144e-5
allele num: 117742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418665
  ensembl transcript: ENST00000468741
  gene symbol: PEX5L
  hgvsc: ENST00000468741.1:c.795G>A
  hgvsp: ENST00000468741.1:c.795G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418054
  ensembl transcript: ENST00000472994
  gene symbol: PEX5L
  hgvsc: ENST00000472994.1:c.1194G>A
  hgvsp: ENST00000472994.1:c.1194G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000418440
  ensembl transcript: ENST00000485199
  gene symbol: PEX5L
  hgvsc: ENST00000485199.1:c.1266G>A
  hgvsp: ENST00000485199.1:c.1266G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000263962
  ensembl transcript: ENST00000263962
  gene symbol: PEX5L
  hgvsc: ENST00000263962.8:c.1365G>A
  hgvsp: ENST00000263962.8:c.1365G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000417270
  ensembl transcript: ENST00000464614
  gene symbol: PEX5L
  hgvsc: ENST00000464614.1:c.1047G>A
  hgvsp: ENST00000464614.1:c.1047G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114757
  ensembl transcript: ENST00000467440
  gene symbol: PEX5L
  hgvsc: ENST00000467440.2:n.1050G>A
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419975
  ensembl transcript: ENST00000467460
  gene symbol: PEX5L
  hgvsc: ENST00000467460.1:c.1371G>A
  hgvsp: ENST00000467460.1:c.1371G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000420555
  ensembl transcript: ENST00000476138
  gene symbol: PEX5L
  hgvsc: ENST00000476138.1:c.1242G>A
  hgvsp: ENST00000476138.1:c.1242G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000376420
  ensembl transcript: ENST00000392649
  gene symbol: PEX5L
  hgvsc: ENST00000392649.3:c.1047G>A
  hgvsp: ENST00000392649.3:c.1047G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114757
  ensembl protein: ENSP00000419348
  ensembl transcript: ENST00000465751
  gene symbol: PEX5L
  hgvsc: ENST00000465751.1:c.1299G>A
  hgvsp: ENST00000465751.1:c.1299G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val457Val
num of homozygotes: 0
reference allele: C

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

GenotypeQuality
all individuals: 12433
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 12
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: 4
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9070
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1921
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3582
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4506
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5412
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20568
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3178
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
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

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.372e0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.35e1

FS
type: SiteQuality
SIO_000300: 2.563e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.289e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

DP
type: SiteQuality
SIO_000300: 2.309226e6

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

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

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

GenotypeQuality
all individuals: 3582
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4506
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1921
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5412
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9071
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20570
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12430
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: 1.94e0

DP
type: SiteQuality
SIO_000300: 2.308952e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

VQSLOD
type: SiteQuality
SIO_000300: -1.313e0

FS
type: SiteQuality
SIO_000300: 3.105e0

MQ
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SIO_000300: 5.925e1

InbreedingCoeff
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SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.322e1

ReadPosRankSum
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SIO_000300: -1.197e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

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

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

QD
type: SiteQuality
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DP
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FS
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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SIO_000300: -3.36e0

ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

DP
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ReadPosRankSum
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MQRankSum
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SIO_000300: -3.14e-1

MQ
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SIO_000300: 5.98e1

InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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SIO_000300: -4.984e0

VQSLOD
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SIO_000300: 2.33e-1

FS
type: SiteQuality
SIO_000300: 4.725e0

QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.36e0

GenotypeQuality
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variant carriers: 0

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

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
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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
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num of homozygotes: 0

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

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

Other
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allele count: 0
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num of homozygotes: 0

MQRankSum
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
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SIO_000300: 2.308485e6

VQSLOD
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SIO_000300: -1.592e0

BaseQRankSum
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SIO_000300: -5.258e0

MQ
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SIO_000300: 5.869e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Other
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allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

ReadPosRankSum
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SIO_000300: 5.87e-1

FS
type: SiteQuality
SIO_000300: 1.119e0

MQRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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QD
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DP
type: SiteQuality
SIO_000300: 2.308882e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

African
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allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

VQSLOD
type: SiteQuality
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DP
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FS
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

East Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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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
allele num: 908
num of homozygotes: 0

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

MQ
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SIO_000300: 5.985e1

QD
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele num: 908
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

Latino
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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allele frequency: 4.623208506703652e-4
allele num: 8652
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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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num of homozygotes: 0

Other
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MQ
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ClippingRankSum
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InbreedingCoeff
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DP
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FS
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MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.819e0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10398
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
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MQRankSum
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VQSLOD
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DP
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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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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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: 8652
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.498800959232614e-5
allele num: 66720
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BaseQRankSum
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FS
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MQRankSum
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DP
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QD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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SIO_000300: 5.963e1

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
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InbreedingCoeff
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SIO_000300: 0.0e0

ReadPosRankSum
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FS
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SIO_000300: 1.25e0

ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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SIO_000300: 5.911e1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.296e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

African
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allele count: 0
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66640
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East Asian
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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MQ
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FS
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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South Asian
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European (Finnish)
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Other
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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: 66620
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InbreedingCoeff
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FS
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DP
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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European (Finnish)
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African
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Other
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South Asian
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Latino
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MQ
type: SiteQuality
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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QD
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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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GenotypeQuality
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Latino
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South Asian
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European (Finnish)
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African
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East Asian
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Other
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European (Non-Finnish)
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QD
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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ReadPosRankSum
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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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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 1920
bin: 8.75e1
variant carriers: 0

African
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allele count: 1
allele frequency: 9.906875371507826e-5
allele num: 10094
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: 7.89e-1

FS
type: SiteQuality
SIO_000300: 1.047e0

QD
type: SiteQuality
SIO_000300: 1.478e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.757e0

BaseQRankSum
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SIO_000300: 6.0e0

FS
type: SiteQuality
SIO_000300: 6.685e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

DP
type: SiteQuality
SIO_000300: 2.28844e6

QD
type: SiteQuality
SIO_000300: 1.431e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514096235956757e-5
allele num: 66046
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.279757e6

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

FS
type: SiteQuality
SIO_000300: 2.196e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.91e-1

QD
type: SiteQuality
SIO_000300: 1.546e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 12408
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.028192471913515e-5
allele num: 66046
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.196e0

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

QD
type: SiteQuality
SIO_000300: 1.546e1

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

DP
type: SiteQuality
SIO_000300: 2.279757e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18753
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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
all individuals: 12416
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variant carriers: 30

GenotypeQuality
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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: 70
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variant carriers: 0

GenotypeQuality
all individuals: 4497
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.735150244584206e-5
allele num: 11448
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.002004008016032e-4
allele num: 9980
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.818457342021519e-4
allele num: 65990
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 1.033937477192556e-3
allele num: 16442
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.88e-2

QD
type: SiteQuality
SIO_000300: 1.654e1

DP
type: SiteQuality
SIO_000300: 2.276731e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4413
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 980
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variant carriers: 0

GenotypeQuality
all individuals: 10810
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 4.149377593360996e-4
allele num: 9640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 2.18744e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.805917576611483e-5
allele num: 11356
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65130
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.66e-1

DP
type: SiteQuality
SIO_000300: 2.180259e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e-1

QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66256
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
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: 894
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 1965
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GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 140
bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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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num of homozygotes: 0

South Asian
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Other
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.618871415356152e-3
allele num: 8648
num of homozygotes: 0

FS
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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SIO_000300: -1.02e-1

VQSLOD
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele frequency: 1.501095799933952e-5
allele num: 66618
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BaseQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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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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GenotypeQuality
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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: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 906
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66666
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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MQ
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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FS
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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SIO_000300: 1.049e1

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

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

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

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

East Asian
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allele 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: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 3.69e0

MQ
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QD
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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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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GenotypeQuality
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Other
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num of homozygotes: 0

African
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East Asian
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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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num of homozygotes: 0

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

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

African
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allele frequency: 9.609840476648087e-5
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num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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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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GenotypeQuality
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Other
type: Population
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

East Asian
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 5.994664748373947e-5
allele num: 66726
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MQ
type: SiteQuality
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BaseQRankSum
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FS
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ClippingRankSum
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SIO_000300: -5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

VQSLOD
type: SiteQuality
SIO_000300: 5.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.49e-1

QD
type: SiteQuality
SIO_000300: 1.252e1

DP
type: SiteQuality
SIO_000300: 3.370822e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 8693
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 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)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -6.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
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ClippingRankSum
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SIO_000300: -5.18e-1

FS
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SIO_000300: 3.824e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

DP
type: SiteQuality
SIO_000300: 3.369844e6

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.141e0

VQSLOD
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SIO_000300: -5.269e-1

ClippingRankSum
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SIO_000300: 2.0e0

MQRankSum
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DP
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SIO_000300: 3.369638e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.763e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.182e0

QD
type: SiteQuality
SIO_000300: 1.347e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.49842555105713e-5
allele num: 66690
num of homozygotes: 0

African
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allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.48e-1

QD
type: SiteQuality
SIO_000300: 1.356e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-1

MQ
type: SiteQuality
SIO_000300: 5.99e1

DP
type: SiteQuality
SIO_000300: 3.368498e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

South Asian
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allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

QD
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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MQ
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FS
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele num: 16428
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East Asian
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African
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Other
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European (Finnish)
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num of homozygotes: 0

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

African
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Latino
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allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

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

GenotypeQuality
all individuals: 1419
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012774162448783e-5
allele num: 66384
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.229e0

QD
type: SiteQuality
SIO_000300: 1.535e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

DP
type: SiteQuality
SIO_000300: 3.343668e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.96e-1

GenotypeQuality
all individuals: 1505
bin: 6.75e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1964
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.250781347668459e-5
allele num: 15998
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

FS
type: SiteQuality
SIO_000300: 1.2884e1

MQRankSum
type: SiteQuality
SIO_000300: -1.148e0

VQSLOD
type: SiteQuality
SIO_000300: -2.018e0

DP
type: SiteQuality
SIO_000300: 3.338499e6

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.516e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.88e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1959
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66104
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.860010293360782e-4
allele num: 15544
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.311e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 7.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

DP
type: SiteQuality
SIO_000300: 3.312738e6

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515243348081702e-5
allele num: 65996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15346
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.629e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

QD
type: SiteQuality
SIO_000300: 1.618e1

DP
type: SiteQuality
SIO_000300: 3.29624e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 890
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.737015806843842e-4
allele num: 11514
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.557e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

FS
type: SiteQuality
SIO_000300: 4.469e0

QD
type: SiteQuality
SIO_000300: 1.376e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

DP
type: SiteQuality
SIO_000300: 3.277028e6

GenotypeQuality
all individuals: 120
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 1.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519710647092794e-5
allele num: 65802
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.881e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.276318e6

FS
type: SiteQuality
SIO_000300: 2.032e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.75219446320054e-5
allele num: 14810
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521005080156968e-5
allele num: 65746
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.3e-1

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

South Asian
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allele count: 18
allele frequency: 1.223491027732463e-3
allele num: 14712
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65680
num of homozygotes: 0

Other
type: Population
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allele num: 886
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 2.78e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1065
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.053621595211921e-5
allele num: 65496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9884
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.212e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 3.263427e6

GenotypeQuality
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bin: 7.5e0
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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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.666355576294914e-4
allele num: 8572
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65336
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

DP
type: SiteQuality
SIO_000300: 3.262761e6

FS
type: SiteQuality
SIO_000300: 2.994e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.544e1

VQSLOD
type: SiteQuality
SIO_000300: 9.320000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9924
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.612747153501274e-5
allele num: 62006
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8948
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.073e0

VQSLOD
type: SiteQuality
SIO_000300: -2.575e-1

DP
type: SiteQuality
SIO_000300: 1.414574e6

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 8.539999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.53e-1

FS
type: SiteQuality
SIO_000300: 2.103e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.2e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2219
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62114
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.018108651911469e-4
allele num: 9940
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10956
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.462422e6

FS
type: SiteQuality
SIO_000300: 3.408e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.59e-1

QD
type: SiteQuality
SIO_000300: 1.434e1

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.27e0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62140
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.214181641573579e-4
allele num: 8236
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.848e0

DP
type: SiteQuality
SIO_000300: 1.481217e6

MQRankSum
type: SiteQuality
SIO_000300: -1.132e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.955e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.476e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.692e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 525

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 399
allele frequency: 6.40655105973025e-3
allele num: 62280
num of homozygotes: 0

Latino
type: Population
allele count: 31
allele frequency: 2.810007251631617e-3
allele num: 11032
num of homozygotes: 1

Other
type: Population
allele count: 4
allele frequency: 5.115089514066497e-3
allele num: 782
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 1.708886208283072e-3
allele num: 9948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 83
allele frequency: 1.276923076923077e-2
allele num: 6500
num of homozygotes: 1

East Asian
type: Population
allele count: 3
allele frequency: 3.630203291384318e-4
allele num: 8264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9052
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.505087e6

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -1.754e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

FS
type: SiteQuality
SIO_000300: 7.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

QD
type: SiteQuality
SIO_000300: 1.332e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-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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bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.022013713460844e-5
allele num: 11084
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9958
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9102
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.216e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

FS
type: SiteQuality
SIO_000300: 2.473e0

DP
type: SiteQuality
SIO_000300: 1.519876e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

QD
type: SiteQuality
SIO_000300: 7.93e0

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

African
type: Population
allele count: 1
allele frequency: 9.899029895070283e-5
allele num: 10102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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FS
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.454e0

VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2862
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GenotypeQuality
all individuals: 180
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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African
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allele frequency: 9.825112988799372e-5
allele num: 10178
num of homozygotes: 0

Other
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European (Non-Finnish)
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allele frequency: 1.558457750210392e-5
allele num: 64166
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European (Finnish)
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allele frequency: 0.0e0
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QD
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InbreedingCoeff
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ClippingRankSum
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MQ
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MQRankSum
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SIO_000300: -5.9e-2

FS
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VQSLOD
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 1.514233797698365e-4
allele num: 6604
num of homozygotes: 0

Other
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South Asian
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European (Non-Finnish)
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allele frequency: 1.550099206349206e-5
allele num: 64512
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Latino
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QD
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FS
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MQ
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DP
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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SIO_000300: 8.41e-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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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 7.8976465013426e-5
allele num: 12662
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65328
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African
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ClippingRankSum
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SIO_000300: 8.1e-2

VQSLOD
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MQ
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MQRankSum
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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QD
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SIO_000300: 5.23e0

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

African
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allele count: 62
allele frequency: 5.993812838360402e-3
allele num: 10344
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13562
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.73550850399167e-4
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.042195248091022e-5
allele num: 65742
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: 5.999999999999999e-4

MQRankSum
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ReadPosRankSum
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MQ
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DP
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QD
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VQSLOD
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ClippingRankSum
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SIO_000300: -1.05e-1

FS
type: SiteQuality
SIO_000300: 5.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.17e-1

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66086
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele num: 14674
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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QD
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ReadPosRankSum
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DP
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ClippingRankSum
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FS
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MQRankSum
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SIO_000300: -7.17e-1

GenotypeQuality
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variant carriers: 27

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.56177974047972e-5
allele num: 66122
num of homozygotes: 0

South Asian
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allele frequency: 1.353729524840937e-3
allele num: 14774
num of homozygotes: 0

African
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Other
type: Population
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allele frequency: 0.0e0
allele num: 886
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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Latino
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allele frequency: 1.733102253032929e-4
allele num: 11540
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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DP
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.506069459923492e-5
allele num: 66398
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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num of homozygotes: 0

South Asian
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Other
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European (Finnish)
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num of homozygotes: 0

DP
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QD
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MQ
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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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
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3066
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30715
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1840
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 118
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2994
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4031
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50665943470138e-5
allele num: 66372
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15420
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.26e0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

QD
type: SiteQuality
SIO_000300: 1.316e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.701468e6

GenotypeQuality
all individuals: 7448
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4025
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1871
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7390
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1840
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 243
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2995
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29702
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66246
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.731002250302925e-4
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15060
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.058e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 1.689631e6

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 8.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.913e0

GenotypeQuality
all individuals: 176
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3026
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7302
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3532
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 256
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4009
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 72
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7389
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1840
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27541
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14200
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51851064475962e-5
allele num: 65854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.199e1

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

DP
type: SiteQuality
SIO_000300: 1.660734e6

FS
type: SiteQuality
SIO_000300: 8.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 252
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3572
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2990
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 168
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1840
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27562
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7299
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3022
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7390
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 2
allele frequency: 1.945903872348706e-4
allele num: 10278
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
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: 14192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

QD
type: SiteQuality
SIO_000300: 1.348e1

MQ
type: SiteQuality
SIO_000300: 5.933e1

VQSLOD
type: SiteQuality
SIO_000300: 7.84e-1

FS
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.66051e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.37e-1